Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut TNFRSF4 7293 broad.mit.edu 37 1 1147457 1147457 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:1147457C>A uc001ade.2 - 5 504 c.499G>T c.(499-501)GAG>TAG p.E167* TNFRSF4_uc001adf.2_Nonsense_Mutation_p.E171* NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 167 TNFR-Cys 4.|Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCCCTGTCCTCACAGATTGCG 0.662 NA 6 18 0.00198382 0.00204096 1 0 CCDC27 148870 broad.mit.edu 37 1 3679939 3679939 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:3679939G>A uc001akv.2 + 7 1303 c.1222G>A c.(1222-1224)GAG>AAG p.E408K NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 408 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CGAGTCGTTTGAGGAGGAGCT 0.428 NA 4 26 0 0 0 0 CLSTN1 22883 broad.mit.edu 37 1 9795145 9795145 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:9795145C>G uc001aqh.2 - 14 2730 c.1971G>C c.(1969-1971)CTG>CTC p.L657L CLSTN1_uc001aqi.2_Silent_p.L647L|CLSTN1_uc010oag.1_Silent_p.L638L|CLSTN1_uc001aqf.2_5'Flank NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 657 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GGACGCCACTCAGGCTGATCT 0.542 NA 29 112 0 0 0 0 TARDBP 23435 broad.mit.edu 37 1 11077026 11077026 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:11077026G>A uc001art.2 + 3 498 c.364G>A c.(364-366)GAG>AAG p.E122K TARDBP_uc010oap.1_Intron NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 122 RRM 1. Missing: Completely abolishes RNA binding. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GGACCTGAAAGAGTATTTTAG 0.383 NA 21 78 0 0 0 0 C1orf158 93190 broad.mit.edu 37 1 12819396 12819396 + Missense_Mutation SNP G G C rs148059585 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:12819396G>C uc001auh.2 + 3 595 c.379G>C c.(379-381)GAG>CAG p.E127Q C1orf158_uc010obe.1_Missense_Mutation_p.E127Q NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 127 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCTGCCAGAGAAGTCTGA 0.522 NA 13 50 0 0 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837643 12837643 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:12837643C>T uc001aui.2 + 3 1380 c.1353C>T c.(1351-1353)TTC>TTT p.F451F NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 451 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATTGTGTTCAGCACTGTCC 0.527 NA 25 73 0 0 0 0 AGMAT 79814 broad.mit.edu 37 1 15904338 15904338 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:15904338C>T uc001awv.1 - 5 885 c.742G>A c.(742-744)GAA>AAA p.E248K DNAJC16_uc001awu.2_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) precursor 248 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding skin(1) 1 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAGTCTTCAGCCAGGACT 0.413 NA 7 19 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19478158 19478158 + Missense_Mutation SNP C C T rs55848569 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:19478158C>T uc001bbi.2 - 48 7196 c.7192G>A c.(7192-7194)GAT>AAT p.D2398N UBR4_uc001bbk.1_Missense_Mutation_p.D52N|UBR4_uc001bbl.1_Missense_Mutation_p.D335N|UBR4_uc001bbm.1_Missense_Mutation_p.D1610N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2398 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGCTTCTTATCAGCCTGCAGG 0.537 NA 21 54 0 0 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474786 20474786 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:20474786C>T uc009vpp.1 + 5 626 c.528C>T c.(526-528)TTC>TTT p.F176F NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 133 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) ACCGTGGCTTCCTCAATGTCT 0.582 NA 8 44 0 0 0 0 WNT4 54361 broad.mit.edu 37 1 22456196 22456196 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:22456196C>G uc001bfs.3 - 2 330 c.226G>C c.(226-228)GAG>CAG p.E76Q WNT4_uc010odt.1_Missense_Mutation_p.E13Q NM_030761 NP_110388 P56705 WNT4_HUMAN wingless-type MMTV integration site family, 76 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TGGCACTCCTCAATGGCCAGC 0.627 NA 14 40 0 0 0 0 FGR 2268 broad.mit.edu 37 1 27942093 27942093 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:27942093C>T uc001boj.2 - 7 1016 c.870G>A c.(868-870)GTG>GTA p.V290V FGR_uc001boi.2_5'UTR|FGR_uc001bok.2_Silent_p.V290V|FGR_uc001bol.2_Silent_p.V290V|FGR_uc001bom.2_Silent_p.V290V NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 290 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCAGCGTCTTCACCGCCACCT 0.682 NA 8 23 0 0 0 0 PHACTR4 65979 broad.mit.edu 37 1 28793131 28793131 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:28793131C>T uc001bpw.2 + 6 957 c.675C>T c.(673-675)GTC>GTT p.V225V PHACTR4_uc001bpu.2_Silent_p.V225V|PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.V209V|PHACTR4_uc001bpy.2_Silent_p.V235V NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 225 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ATCTCTCTGTCACCCCTTCCC 0.597 NA 11 36 0 0 0 0 KPNA6 23633 broad.mit.edu 37 1 32632895 32632895 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:32632895C>G uc001bug.2 + 12 1330 c.1242C>G c.(1240-1242)ATC>ATG p.I414M KPNA6_uc001buh.2_Missense_Mutation_p.I189M|KPNA6_uc010ogx.1_Missense_Mutation_p.I411M|KPNA6_uc010ogy.1_Missense_Mutation_p.I419M|KPNA6_uc009vtz.2_Missense_Mutation_p.I309M NM_012316 NP_036448 O60684 IMA7_HUMAN karyopherin alpha 6 414 ARM 9. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTGAGCAGATCAGGTATTACA 0.473 NA 22 79 0 0 0 0 YARS 8565 broad.mit.edu 37 1 33263435 33263435 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:33263435C>T uc001bvy.1 - 5 1308 c.520G>A c.(520-522)GAA>AAA p.E174K NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 174 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AAATACTCTTCATCCAAAGCC 0.274 NA 13 31 0 0 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941518 37941518 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:37941518G>C uc001cbb.3 + 2 571 c.421G>C c.(421-423)GAT>CAT p.D141H NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 141 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGGTCATCGATGGGAGCAA 0.592 NA 5 8 0 0 0 0 GNL2 29889 broad.mit.edu 37 1 38040301 38040301 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:38040301C>G uc001cbk.2 - 11 1430 c.1267G>C c.(1267-1269)GAG>CAG p.E423Q NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 423 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) GCGAGCTTCTCAAGAAAGTCC 0.428 NA 18 28 0 0 0 0 MTF1 4520 broad.mit.edu 37 1 38323027 38323027 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:38323027G>C uc001cce.1 - 2 445 c.304C>G c.(304-306)CAG>GAG p.Q102E MTF1_uc009vvj.1_Translation_Start_Site NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 102 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAATGAATCTGATCTGGTGAG 0.453 NA 19 63 0 0 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630388 43630388 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:43630388C>T uc001cin.2 - 8 993 c.796G>A c.(796-798)GAT>AAT p.D266N EBNA1BP2_uc001cio.2_Missense_Mutation_p.D321N|EBNA1BP2_uc001cim.2_Missense_Mutation_p.D161N|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.D321N NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 266 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATACATCATCATAGCTCTCC 0.502 NA 13 57 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44069508 44069508 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069508G>A uc001cjr.2 + 16 3025 c.2685G>A c.(2683-2685)AAG>AAA p.K895K PTPRF_uc001cjs.2_Silent_p.K886K|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.K455K|PTPRF_uc001cjv.2_Silent_p.K355K|PTPRF_uc001cjw.2_Silent_p.K121K NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 895 Extracellular (Potential).|Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGCTGCCAAGAACCGGGCTG 0.607 NA 11 26 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44069632 44069632 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069632G>T uc001cjr.2 + 16 3149 c.2809G>T c.(2809-2811)GAC>TAC p.D937Y PTPRF_uc001cjs.2_Missense_Mutation_p.D928Y|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D497Y|PTPRF_uc001cjv.2_Missense_Mutation_p.D397Y|PTPRF_uc001cjw.2_Missense_Mutation_p.D163Y NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 937 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACTGGCCTGGGACCCGCCAGT 0.602 NA 9 21 1.13e-05 1.19e-05 1 0 PTPRF 5792 broad.mit.edu 37 1 44069731 44069731 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069731G>C uc001cjr.2 + 16 3248 c.2908G>C c.(2908-2910)GAC>CAC p.D970H PTPRF_uc001cjs.2_Missense_Mutation_p.D961H|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D530H|PTPRF_uc001cjv.2_Missense_Mutation_p.D430H|PTPRF_uc001cjw.2_Missense_Mutation_p.D196H NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 970 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CATCACGACAGACACCCGCTT 0.597 NA 20 59 0 0 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456097 44456097 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44456097C>T uc001clg.2 + 7 1466 c.1096C>T c.(1096-1098)CCG>TCG p.P366S B4GALT2_uc001clh.2_Missense_Mutation_p.P300S|B4GALT2_uc010okl.1_Missense_Mutation_p.P395S|B4GALT2_uc001cli.2_Missense_Mutation_p.P366S|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 366 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) TGGGCGGCCTCCGTCGTGGCC 0.617 NA 26 99 0 0 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456112 44456112 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44456112C>A uc001clg.2 + 7 1481 c.1111C>A c.(1111-1113)CGG>AGG p.R371R B4GALT2_uc001clh.2_Silent_p.R305R|B4GALT2_uc010okl.1_Silent_p.R400R|B4GALT2_uc001cli.2_Silent_p.R371R|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 371 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GTGGCCCCCTCGGGGCTGACA 0.622 NA 16 81 0.000566183 0.000588851 1 0 LRRC42 115353 broad.mit.edu 37 1 54426051 54426051 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:54426051G>A uc001cwj.1 + 4 828 c.628G>A c.(628-630)GAT>AAT p.D210N LRRC42_uc001cwl.1_Missense_Mutation_p.D210N|LRRC42_uc001cwk.1_Missense_Mutation_p.D210N|LRRC42_uc009vzm.1_Missense_Mutation_p.D210N NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 210 LRR 3. 0 CCACCTGAAGGATAATTGTTT 0.373 NA 32 62 0 0 0 0 HOOK1 51361 broad.mit.edu 37 1 60334000 60334000 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:60334000G>C uc009wad.2 + 21 2026 c.1924G>C c.(1924-1926)GAG>CAG p.E642Q HOOK1_uc001czo.2_Missense_Mutation_p.E642Q|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E600Q NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 642 Potential. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) GGCAGAGAAAGAGAGAAGAAT 0.303 NA 11 37 0 0 0 0 KANK4 163782 broad.mit.edu 37 1 62703988 62703988 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:62703988C>T uc001dah.3 - 10 3326 c.2949G>A c.(2947-2949)CTG>CTA p.L983L KANK4_uc001dai.3_Silent_p.L355L|KANK4_uc001daf.3_Silent_p.L121L|KANK4_uc001dag.3_Silent_p.L339L NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 983 ANK 5. ovary(3)|skin(2)|lung(1) 6 CGTGGGCTCTCAGAAGCCCAG 0.557 NA 7 29 0 0 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67236139 67236139 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:67236139G>A uc001dcv.2 + 3 320 c.189G>A c.(187-189)CAG>CAA p.Q63Q TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 63 0 TTACAGTTCAGATGGAAAACA 0.348 NA 33 105 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75055435 75055435 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:75055435C>T uc001dgg.2 - 12 2275 c.2056G>A c.(2056-2058)GAG>AAG p.E686K uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E480K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 686 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCGGACTTCTCAGATAAACCC 0.443 NA 16 102 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86289244 86289244 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:86289244C>T uc001dlj.2 - 45 3806 c.3764G>A c.(3763-3765)GGA>GAA p.G1255E COL24A1_uc001dli.2_Missense_Mutation_p.G391E|COL24A1_uc010osd.1_Missense_Mutation_p.G555E|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1255 Collagen-like 14. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTTTTAGTCCTTGTTCACC 0.338 NA 21 60 0 0 0 0 CLCA1 1179 broad.mit.edu 37 1 86939133 86939133 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:86939133G>C uc001dlt.2 + 2 325 c.196G>C c.(196-198)GAA>CAA p.E66Q CLCA1_uc001dls.1_Missense_Mutation_p.E66Q NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 66 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GTATCTGCTTGAAGCTACAGG 0.358 NA 7 44 0 0 0 0 GBP3 2635 broad.mit.edu 37 1 89486310 89486310 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:89486310G>C uc001dmt.2 - 2 300 c.95C>G c.(94-96)TCT>TGT p.S32C GBP3_uc010oss.1_5'UTR|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 32 Helical; (Potential). integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TGTAATGGCAGACAGGATTTT 0.517 NA 26 78 0 0 0 0 BCAR3 8412 broad.mit.edu 37 1 94037340 94037340 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:94037340C>T uc001dpz.2 - 9 2136 c.1861G>A c.(1861-1863)GAG>AAG p.E621K BCAR3_uc001dqa.2_Missense_Mutation_p.E621K|BCAR3_uc001dqb.2_Missense_Mutation_p.E621K|BCAR3_uc001dpx.3_Missense_Mutation_p.E297K|BCAR3_uc001dpy.2_Missense_Mutation_p.E530K|BCAR3_uc009wdm.1_Missense_Mutation_p.E297K NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 621 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GCTCGGTCCTCCAAAGTGCCC 0.557 NA 6 90 0 0 0 0 EXTL2 2135 broad.mit.edu 37 1 101339776 101339776 + Missense_Mutation SNP C C T rs142198700 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:101339776C>T uc001dtk.1 - 5 1052 c.715G>A c.(715-717)GAT>AAT p.D239N EXTL2_uc001dtl.1_Missense_Mutation_p.D239N|EXTL2_uc010ouk.1_Missense_Mutation_p.D226N|EXTL2_uc001dtm.1_Missense_Mutation_p.D238N NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 239 Lumenal (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTTGAGTATCATCTATCAAA 0.383 NA 7 14 0 0 0 0 CSDE1 7812 broad.mit.edu 37 1 115282405 115282405 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:115282405G>T uc001efk.2 - 3 573 c.107C>A c.(106-108)TCT>TAT p.S36Y CSDE1_uc001efi.2_Missense_Mutation_p.S82Y|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.S36Y|CSDE1_uc001efm.2_Missense_Mutation_p.S82Y|CSDE1_uc009wgv.2_Missense_Mutation_p.S36Y|CSDE1_uc001efn.2_Missense_Mutation_p.S36Y NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 36 CSD 1. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATCCGTAAGAGGTTAACAG 0.408 NA 97 258 7.48e-49 8.19e-49 1 0 CA14 23632 broad.mit.edu 37 1 150233959 150233959 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:150233959G>A uc001etx.2 + 3 487 c.178G>A c.(178-180)GAT>AAT p.D60N NM_012113 NP_036245 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV precursor 60 Extracellular (Potential). integral to membrane carbonate dehydratase activity|metal ion binding ovary(1) 1 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATTTGACCCTGATTTGCCTGC 0.552 NA 14 36 0 0 0 0 SETDB1 9869 broad.mit.edu 37 1 150923439 150923439 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:150923439G>A uc001evu.2 + 13 2276 c.2086G>A c.(2086-2088)GAG>AAG p.E696K SETDB1_uc009wmf.2_Missense_Mutation_p.E697K|SETDB1_uc001evv.2_Missense_Mutation_p.E696K|SETDB1_uc009wmg.1_Missense_Mutation_p.E696K NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGTGTCAATGAGATTGACAC 0.468 NA 16 52 0 0 0 0 SNX27 81609 broad.mit.edu 37 1 151630850 151630850 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:151630850C>T uc001eyn.1 + 3 699 c.683C>T c.(682-684)TCA>TTA p.S228L SNX27_uc001eyo.2_Missense_Mutation_p.S135L|SNX27_uc001eyp.2_Missense_Mutation_p.S42L NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 228 PX. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTTTCATTATCAGAACAACAA 0.433 NA 18 124 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152191644 152191644 + Missense_Mutation SNP C C G rs141963410 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:152191644C>G uc001ezt.1 - 3 2537 c.2461G>C c.(2461-2463)GAG>CAG p.E821Q NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 821 8 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACTCGTGTTGCCCA 0.567 NA 11 45 0 0 0 0 S100A2 6273 broad.mit.edu 37 1 153536239 153536239 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:153536239G>C uc001fcb.2 - 2 450 c.112C>G c.(112-114)CTG>GTG p.L38V NM_005978 NP_005969 P29034 S10A2_HUMAN S100 calcium binding protein A2 39 EF-hand 1. endothelial cell migration calcium ion binding ovary(1) 1 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCCTTGTGCAGAAGTTCCTTC 0.582 NA 16 43 0 0 0 0 ADAM15 8751 broad.mit.edu 37 1 155030888 155030888 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:155030888C>T uc001fgr.1 + 15 1989 c.1888C>T c.(1888-1890)CTG>TTG p.L630L ADAM15_uc001fgq.1_Silent_p.L315L|ADAM15_uc010pet.1_Silent_p.L614L|ADAM15_uc010peu.1_Silent_p.L647L|ADAM15_uc001fgt.1_Silent_p.L630L|ADAM15_uc010pev.1_Silent_p.L640L|ADAM15_uc001fgs.1_Silent_p.L630L|ADAM15_uc001fgu.1_Silent_p.L630L|ADAM15_uc001fgw.1_Silent_p.L630L|ADAM15_uc001fgv.1_Silent_p.L630L|ADAM15_uc001fgx.1_Silent_p.L630L|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 630 Extracellular (Potential).|Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCTCCTGACTCTGCCTGGCAC 0.597 NA 8 24 0 0 0 0 CD1E 913 broad.mit.edu 37 1 158324275 158324275 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:158324275C>T uc001fse.2 + 2 406 c.167C>T c.(166-168)TCA>TTA p.S56L CD1E_uc010pid.1_Missense_Mutation_p.S54L|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.S56L|CD1E_uc001fsk.2_Missense_Mutation_p.S56L|CD1E_uc001fsj.2_Missense_Mutation_p.S56L|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.S56L|CD1E_uc001fry.2_Missense_Mutation_p.S56L|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.S56L|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.S56L|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 56 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) AGTGAGGGCTCAGGATGGCTG 0.567 NA 19 52 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158641186 158641186 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:158641186G>A uc001fst.1 - 12 1745 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 516 Spectrin 6. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCATGCTTCTGAAGAAGGGCT 0.488 NA 9 36 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160281696 160281696 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:160281696G>A uc009wti.2 - 11 1432 c.1038C>T c.(1036-1038)TTC>TTT p.F346F COPA_uc001fvv.3_Silent_p.F346F|COPA_uc009wtj.1_Silent_p.F292F NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 346 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGAGCTGTTGAAATCCAGCT 0.473 NA 6 28 0 0 0 0 CD84 8832 broad.mit.edu 37 1 160535406 160535406 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:160535406G>A uc001fwh.3 - 2 200 c.176C>T c.(175-177)TCT>TTT p.S59F CD84_uc001fwf.3_Missense_Mutation_p.S59F|CD84_uc001fwg.3_Missense_Mutation_p.S59F|CD84_uc009wtn.2_Missense_Mutation_p.S59F|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.S59F|CD84_uc001fwk.2_Missense_Mutation_p.S59F NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 59 Extracellular (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATAAGCAACAGATGTTTTAGA 0.423 NA 36 111 0 0 0 0 C1orf156 92342 broad.mit.edu 37 1 169761757 169761757 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:169761757C>T uc001ggn.2 - 2 1358 c.1080G>A c.(1078-1080)AAG>AAA p.K360K C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 360 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTATGAACCTCTTCAATCCTT 0.308 NA 3 8 0 0 0 0 TNR 7143 broad.mit.edu 37 1 175299264 175299264 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:175299264C>A uc001gkp.1 - 19 3820 c.3739G>T c.(3739-3741)GAG>TAG p.E1247* TNR_uc009wwu.1_Nonsense_Mutation_p.E1247* NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1247 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTGCTGTCCTCGACAGAGAAC 0.587 NA 13 32 4.38e-07 4.68e-07 1 0 FAM20B 9917 broad.mit.edu 37 1 179041145 179041145 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:179041145G>A uc001gmc.2 + 8 1389 c.1096G>A c.(1096-1098)GTG>ATG p.V366M NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 366 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 CATCTCCCCAGTGCTCTCTGA 0.557 NA 35 89 0 0 0 0 TMCC2 9911 broad.mit.edu 37 1 205238423 205238423 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:205238423G>C uc001hbz.1 + 4 1537 c.1093G>C c.(1093-1095)GAG>CAG p.E365Q TMCC2_uc010prf.1_Missense_Mutation_p.E287Q|TMCC2_uc001hca.2_Missense_Mutation_p.E140Q|TMCC2_uc001hcb.1_Missense_Mutation_p.E125Q|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Missense_Mutation_p.E132Q NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 365 Potential. integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GAAGGAGATTGAGCAGAACGG 0.632 NA 9 9 0 0 0 0 CR2 1380 broad.mit.edu 37 1 207643212 207643212 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:207643212G>A uc001hfw.2 + 6 1084 c.990G>A c.(988-990)CAG>CAA p.Q330Q CR2_uc001hfv.2_Silent_p.Q330Q|CR2_uc009xch.2_Silent_p.Q330Q|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 330 Sushi 5.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TTGATAGTCAGAAGACTGGGA 0.517 NA 10 25 0 0 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415084 210415084 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:210415084G>A uc001hhy.2 + 4 652 c.473G>A c.(472-474)GGC>GAC p.G158D SERTAD4_uc009xcw.2_Missense_Mutation_p.G158D NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 158 protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TCTTTCAATGGCACCTCTGCC 0.453 NA 42 97 0 0 0 0 KCNK2 3776 broad.mit.edu 37 1 215368397 215368397 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:215368397G>A uc001hkq.2 + 6 1094 c.925G>A c.(925-927)GAT>AAT p.D309N KCNK2_uc001hko.2_Missense_Mutation_p.D305N|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.D294N NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 309 Cytoplasmic (Potential). DWL -> RLV (in Ref. 3; AAD01203). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CATGATTGGAGATTGGCTCCG 0.373 NA 46 134 0 0 0 0 ZNF678 339500 broad.mit.edu 37 1 227842557 227842557 + Missense_Mutation SNP T T G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:227842557T>G uc001hqw.1 + 4 951 c.606T>G c.(604-606)ATT>ATG p.I202M ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 257 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) ATAAGAAAATTCATAGTGGAG 0.368 NA 39 116 0 0 0 0 GTPBP4 23560 broad.mit.edu 37 10 1063059 1063059 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:1063059G>C uc001ift.2 + 17 1868 c.1797G>C c.(1795-1797)AAG>AAC p.K599N GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.K483N|GTPBP4_uc010qae.1_Missense_Mutation_p.K552N NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 599 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CTCAGAAGAAGATGAATCGGT 0.403 NA 15 63 0 0 0 0 WDR37 22884 broad.mit.edu 37 10 1123898 1123898 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:1123898C>G uc001igf.1 + 3 363 c.190C>G c.(190-192)CAA>GAA p.Q64E WDR37_uc001ige.2_Missense_Mutation_p.Q64E|WDR37_uc009xhm.1_Missense_Mutation_p.Q64E|WDR37_uc009xhn.1_Intron|WDR37_uc001igg.1_RNA NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 64 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) ACTGTTTGGTCAAATAGAAAG 0.318 NA 19 63 0 0 0 0 DHTKD1 55526 broad.mit.edu 37 10 12126746 12126746 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:12126746C>G uc001ild.3 + 3 617 c.518C>G c.(517-519)TCT>TGT p.S173C NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 173 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATGCTGGAATCTCAGGTAAAA 0.269 NA 12 54 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64946111 64946111 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:64946111C>T uc001jmn.2 - 19 6903 c.6603G>A c.(6601-6603)ATG>ATA p.M2201I JMJD1C_uc001jml.2_Missense_Mutation_p.M1964I|JMJD1C_uc001jmm.2_Missense_Mutation_p.M1913I|JMJD1C_uc010qiq.1_Missense_Mutation_p.M2019I|JMJD1C_uc009xpi.2_Missense_Mutation_p.M2019I|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.M108I NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2201 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GGCTAATGTTCATTTTCTTAT 0.318 NA 8 32 0 0 0 0 MYPN 84665 broad.mit.edu 37 10 69881415 69881415 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:69881415G>A uc001jnm.3 + 3 405 c.220G>A c.(220-222)GAA>AAA p.E74K MYPN_uc001jnl.1_Missense_Mutation_p.E74K|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.E74K|MYPN_uc001jnp.1_Missense_Mutation_p.E74K|MYPN_uc009xps.2_Missense_Mutation_p.E74K|MYPN_uc009xpt.2_Missense_Mutation_p.E74K|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 74 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AGAATTAGACGAAAGTGTCAA 0.488 NA 12 50 0 0 0 0 RUFY2 55680 broad.mit.edu 37 10 70156607 70156607 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:70156607G>A uc001job.2 - 4 760 c.433C>T c.(433-435)CGA>TGA p.R145* RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Nonsense_Mutation_p.R52*|RUFY2_uc001jod.1_Nonsense_Mutation_p.R110*|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Nonsense_Mutation_p.R110* NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 159 RUN. nucleus metal ion binding ovary(1) 1 AGGGCTAATCGAAGCCACGCT 0.428 NA 17 38 0 0 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70958267 70958267 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:70958267G>A uc001jpe.1 + 9 1218 c.1163G>A c.(1162-1164)CGG>CAG p.R388Q SUPV3L1_uc010qjd.1_Missense_Mutation_p.R257Q NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 388 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 ATTGAAATTCGGGGATTAGAA 0.393 NA 21 84 0 0 0 0 TTC18 118491 broad.mit.edu 37 10 75051064 75051064 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:75051064C>G uc009xrc.2 - 20 2490 c.2369G>C c.(2368-2370)AGA>ACA p.R790T TTC18_uc001jty.2_Missense_Mutation_p.R790T|TTC18_uc001jtv.3_Intron|TTC18_uc001jtw.3_Intron|TTC18_uc001jtx.2_Missense_Mutation_p.R171T NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 790 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) TCTCTTCCCTCTTTCCTCAGT 0.493 NA 23 121 0 0 0 0 VCL 7414 broad.mit.edu 37 10 75877857 75877857 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:75877857C>T uc001jwd.2 + 22 3429 c.3335C>T c.(3334-3336)GCT>GTT p.A1112V VCL_uc009xrr.2_Missense_Mutation_p.A793V|VCL_uc001jwe.2_Missense_Mutation_p.A1044V|VCL_uc010qkz.1_Missense_Mutation_p.A305V NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 1112 C-terminal tail. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) GCTGAAGCTGCTTCAATCAAA 0.517 NA 4 69 0 0 0 0 HECTD2 143279 broad.mit.edu 37 10 93242780 93242780 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:93242780G>C uc001khl.2 + 8 868 c.768G>C c.(766-768)CAG>CAC p.Q256H LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.Q256H|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 256 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 TGCTACGACAGATAGCTACCT 0.308 NA 16 35 0 0 0 0 CYP2C9 1559 broad.mit.edu 37 10 96702031 96702031 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:96702031G>C uc001kka.3 + 3 439 c.414G>C c.(412-414)AAG>AAC p.K138N CYP2C9_uc009xut.2_Missense_Mutation_p.K138N|CYP2C9_uc001kjz.2_Missense_Mutation_p.K138N NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 138 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GGATGGGGAAGAGGAGCATTG 0.502 NA 16 68 0 0 0 0 SFRP5 6425 broad.mit.edu 37 10 99527298 99527298 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:99527298G>T uc001kor.3 - 3 1093 c.927C>A c.(925-927)TTC>TTA p.F309L NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 309 apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) CCCCGTAGAAGAAAGGGTAGT 0.587 NA 5 21 0.00116845 0.00120535 1 0 SFRP5 6425 broad.mit.edu 37 10 99527328 99527328 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:99527328G>A uc001kor.3 - 3 1063 c.897C>T c.(895-897)TTC>TTT p.F299F NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 299 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) AGGGGTAGGAGAACATGAATT 0.567 NA 8 29 0 0 0 0 CWF19L1 55280 broad.mit.edu 37 10 102003530 102003530 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:102003530C>A uc001kqq.1 - 10 1056 c.969G>T c.(967-969)CAG>CAT p.Q323H CWF19L1_uc001kqs.1_Missense_Mutation_p.Q75H|CWF19L1_uc001kqr.1_Missense_Mutation_p.Q323H|CWF19L1_uc001kqt.1_Splice_Site_p.P28_splice|CWF19L1_uc010qpn.1_Missense_Mutation_p.Q186H NM_018294 NP_060764 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control 323 catalytic activity 0 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) GTCCTGGAGGCTGAGCTTCAT 0.443 NA 29 90 1.89e-17 2.06e-17 1 0 PSD 5662 broad.mit.edu 37 10 104173810 104173810 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:104173810G>A uc001kvg.1 - 5 1796 c.1269C>T c.(1267-1269)CTC>CTT p.L423L PSD_uc001kvh.1_Silent_p.L44L|PSD_uc009xxd.1_Silent_p.L423L NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 423 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCAGCGAGGCGAGGCTGGTAT 0.652 NA 4 46 0 0 0 0 MUC6 4588 broad.mit.edu 37 11 1016425 1016425 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:1016425G>A uc001lsw.2 - 31 6427 c.6376C>T c.(6376-6378)CAG>TAG p.Q2126* NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2126 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGGACAGCTGATTAGTTGTG 0.527 NA 5 26 0 0 0 0 RRP8 23378 broad.mit.edu 37 11 6622653 6622653 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:6622653C>T uc001med.2 - 3 722 c.643G>A c.(643-645)GCC>ACC p.A215T ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 215 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 TCTGTGGGGGCCTCAGCTGGG 0.592 NA 11 39 0 0 0 0 DKK3 27122 broad.mit.edu 37 11 11988594 11988594 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:11988594G>A uc001mju.2 - 5 637 c.580C>T c.(580-582)CAC>TAC p.H194Y DKK3_uc010rcf.1_Missense_Mutation_p.H166Y|DKK3_uc001mjv.2_Missense_Mutation_p.H194Y|DKK3_uc001mjw.2_Missense_Mutation_p.H194Y|DKK3_uc010rcg.1_Missense_Mutation_p.H194Y NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 194 DKK-type Cys-1. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) TTGGTGCAGTGACCCCAGACA 0.622 NA OREG0020766 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 41 0 0 0 0 C11orf58 10944 broad.mit.edu 37 11 16760339 16760339 + Missense_Mutation SNP G G C rs146011841 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:16760339G>C uc001mmk.2 + 1 192 c.14G>C c.(13-15)AGA>ACA p.R5T C11orf58_uc010rct.1_5'UTR|SOX6_uc001mmh.1_5'Flank NM_014267 NP_055082 O00193 SMAP_HUMAN small acidic protein isoform a 5 0 AGTGCTGCCAGAGAGTCTCAC 0.582 NA 3 46 0 0 0 0 WT1 7490 broad.mit.edu 37 11 32417879 32417879 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:32417879G>A uc001mtn.1 - 7 1369 c.1173C>T c.(1171-1173)TTC>TTT p.F391F WT1_uc001mtl.1_Silent_p.F179F|WT1_uc001mtm.1_Silent_p.F162F|WT1_uc001mto.1_Silent_p.F391F|WT1_uc001mtp.1_Silent_p.F374F|WT1_uc001mtq.1_Silent_p.F374F|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 323 C2H2-type 1. adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) AAGCACACATGAAGGGGCGTT 0.542 NA D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 17 49 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33689480 33689480 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:33689480C>G uc001mup.3 + 20 5472 c.5348C>G c.(5347-5349)TCC>TGC p.S1783C NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1777 integral to membrane ovary(2) 2 AGCTCTCCCTCCAGGCTTCCT 0.687 NA 7 12 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62286412 62286412 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62286412C>G uc001ntl.2 - 5 15777 c.15477G>C c.(15475-15477)CTG>CTC p.L5159L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5159 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGGCCTTTCAGGTCACCCT 0.522 NA 9 44 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62291157 62291157 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62291157C>T uc001ntl.2 - 5 11032 c.10732G>A c.(10732-10734)GAT>AAT p.D3578N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3578 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTTGATATCAACCTCTGGC 0.468 NA 55 162 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62294428 62294428 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62294428C>G uc001ntl.2 - 5 7761 c.7461G>C c.(7459-7461)ATG>ATC p.M2487I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2487 nervous system development nucleus protein binding p.M2487V(1) ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCCTGATGTTCATATCTGGTA 0.478 NA 49 147 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62296791 62296791 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62296791C>G uc001ntl.2 - 5 5398 c.5098G>C c.(5098-5100)GAT>CAT p.D1700H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1700 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACCTCCACATCTGGGGCATCA 0.493 NA 60 241 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62296833 62296833 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62296833C>G uc001ntl.2 - 5 5356 c.5056G>C c.(5056-5058)GAT>CAT p.D1686H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1686 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATGTCAACATCTGGCACTTTC 0.488 NA 71 259 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62297749 62297749 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62297749C>T uc001ntl.2 - 5 4440 c.4140G>A c.(4138-4140)CTG>CTA p.L1380L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1380 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGCATCTTCAGGTGCCAAT 0.498 NA 81 236 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62298201 62298201 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62298201C>G uc001ntl.2 - 5 3988 c.3688G>C c.(3688-3690)GAA>CAA p.E1230Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1230 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTTGATTTCAACATCTGGC 0.483 NA 89 285 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62298786 62298786 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62298786C>G uc001ntl.2 - 5 3403 c.3103G>C c.(3103-3105)GAT>CAT p.D1035H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1035 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCATTAGTATCTACTTTTGGT 0.463 NA 14 84 0 0 0 0 SF1 7536 broad.mit.edu 37 11 64536578 64536578 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:64536578G>C uc001obb.1 - 8 1180 c.803C>G c.(802-804)TCA>TGA p.S268* SF1_uc010rnm.1_5'UTR|SF1_uc010rnn.1_Nonsense_Mutation_p.S242*|SF1_uc001oaz.1_Nonsense_Mutation_p.S393*|SF1_uc001oba.1_Nonsense_Mutation_p.S268*|SF1_uc001obc.1_Nonsense_Mutation_p.S268*|SF1_uc001obd.1_Nonsense_Mutation_p.S268*|SF1_uc001obe.1_Nonsense_Mutation_p.S153*|SF1_uc010rno.1_Nonsense_Mutation_p.S153* NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 268 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 GCGGGTCTCTGAGCTCTGCCA 0.488 NA 16 82 0 0 0 0 CFL1 1072 broad.mit.edu 37 11 65623593 65623593 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:65623593C>T uc001ofs.2 - 2 358 c.124G>A c.(124-126)GAG>AAG p.E42K CFL1_uc001oft.2_Missense_Mutation_p.E42K|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 42 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) TTCTTGTCCTCACTCAGGCAG 0.547 NA 17 56 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704300 68704300 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:68704300G>C uc001ook.1 + 13 2454 c.2352G>C c.(2350-2352)AAG>AAC p.K784N IGHMBP2_uc001ool.1_Missense_Mutation_p.K408N|IGHMBP2_uc001oom.1_Missense_Mutation_p.K362N NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 784 R3H.|SS DNA-binding (By similarity). cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGTGAGCAAGAGGGCCCCGC 0.682 NA 5 17 0 0 0 0 FCHSD2 9873 broad.mit.edu 37 11 72600885 72600885 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:72600885G>A uc009ytl.2 - 11 1251 c.1030C>T c.(1030-1032)CAC>TAC p.H344Y FCHSD2_uc010rrg.1_Missense_Mutation_p.H208Y|FCHSD2_uc001oth.3_Missense_Mutation_p.H288Y|FCHSD2_uc001oti.2_Missense_Mutation_p.H303Y NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 344 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CGTTGTTGGTGAACAATGTTT 0.393 NA 7 12 0 0 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73372592 73372592 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:73372592G>C uc001oua.2 + 8 1108 c.677G>C c.(676-678)GGA>GCA p.G226A PLEKHB1_uc001oub.2_Missense_Mutation_p.G191A|PLEKHB1_uc001ouc.2_Missense_Mutation_p.G207A|PLEKHB1_uc001oud.2_Missense_Mutation_p.G172A|PLEKHB1_uc009ytq.2_Missense_Mutation_p.G172A NM_021200 NP_067023 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B 226 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity ovary(1)|lung(1) 2 ATGCTTGCGGGAGCCGCCACT 0.692 NA OREG0021217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 62 0 0 0 0 PGM2L1 283209 broad.mit.edu 37 11 74056565 74056565 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:74056565G>C uc001ovb.1 - 9 1463 c.1167C>G c.(1165-1167)GTC>GTG p.V389V NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 389 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) TTTTAGAAGAGACTGTGGTGG 0.333 NA 10 52 0 0 0 0 OR2AT4 341152 broad.mit.edu 37 11 74799889 74799889 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:74799889G>C uc010rro.1 - 1 870 c.870C>G c.(868-870)CTC>CTG p.L290L NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAGGGGGTTGAGAATTGGTG 0.483 NA 20 61 0 0 0 0 MRE11A 4361 broad.mit.edu 37 11 94179020 94179020 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:94179020G>C uc001peu.2 - 16 2012 c.1823C>G c.(1822-1824)TCA>TGA p.S608* MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Nonsense_Mutation_p.S611* NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 608 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) AGCAGTCTTTGAGTTCCTGCT 0.378 NA Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 32 89 0 0 0 0 BIRC3 330 broad.mit.edu 37 11 102195711 102195711 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:102195711G>A uc001pgx.2 + 3 693 c.471G>A c.(469-471)TTG>TTA p.L157L NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 157 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TTTCTGCCTTGATGAGAAGTT 0.408 NA T MALT1 MALT 49 150 0 0 0 0 EXPH5 23086 broad.mit.edu 37 11 108384448 108384448 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:108384448C>T uc001pkk.2 - 6 1897 c.1786G>A c.(1786-1788)GAG>AAG p.E596K EXPH5_uc010rvy.1_Missense_Mutation_p.E408K|EXPH5_uc010rvz.1_Missense_Mutation_p.E440K|EXPH5_uc010rwa.1_Missense_Mutation_p.E520K NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 596 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTTACCAACTCACTAGATTTG 0.418 NA 6 85 0 0 0 0 FDX1 2230 broad.mit.edu 37 11 110306635 110306635 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:110306635C>T uc001pkx.2 + 2 514 c.263C>T c.(262-264)TCT>TTT p.S88F NM_004109 NP_004100 P10109 ADX_HUMAN ferredoxin 1 precursor 88 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding 0 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) GTTGGTGATTCTCTGCTAGAT 0.323 NA 12 39 0 0 0 0 DRD2 1813 broad.mit.edu 37 11 113281596 113281596 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:113281596C>T uc001pnz.2 - 7 1506 c.1185G>A c.(1183-1185)CTG>CTA p.L395L DRD2_uc010rwv.1_Silent_p.L394L|DRD2_uc001poa.3_Silent_p.L395L|DRD2_uc001pob.3_Silent_p.L366L NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 395 Helical; Name=6; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AGTGTATGTTCAGGATGTGTG 0.602 NA 12 42 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118361969 118361969 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:118361969G>A uc001pta.2 + 14 4778 c.4755G>A c.(4753-4755)ATG>ATA p.M1585I MLL_uc001ptb.2_Missense_Mutation_p.M1585I|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1585 PHD-type 3. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGAGTAAGATGATGCAATGTG 0.398 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 33 107 0 0 0 0 NTM 50863 broad.mit.edu 37 11 132082033 132082033 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:132082033C>G uc001qgp.2 + 3 1182 c.518C>G c.(517-519)TCT>TGT p.S173C NTM_uc001qgm.2_Missense_Mutation_p.S173C|NTM_uc010sch.1_Missense_Mutation_p.S164C|NTM_uc010sci.1_Missense_Mutation_p.S173C|NTM_uc010scj.1_Missense_Mutation_p.S132C|NTM_uc001qgo.2_Missense_Mutation_p.S173C|NTM_uc001qgq.2_Missense_Mutation_p.S173C|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 173 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AGACACATCTCTCCCAAAGGT 0.443 NA 18 66 0 0 0 0 NANOG 79923 broad.mit.edu 37 12 7942253 7942253 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:7942253G>C uc009zfy.1 + 1 259 c.43G>C c.(43-45)GAA>CAA p.E15Q NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 15 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) GCCTTGCTTTGAAGCATCCGA 0.438 NA 9 105 0 0 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214128 11214128 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:11214128C>G uc001qzp.1 - 1 766 c.766G>C c.(766-768)GAA>CAA p.E256Q PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN taste receptor, type 2, member 46 256 Extracellular (Potential). sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GGTTTGTTTTCCAGACTCTCA 0.423 NA 18 126 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12284896 12284896 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:12284896C>T uc001rah.3 - 18 3971 c.3829G>A c.(3829-3831)GAA>AAA p.E1277K BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1277 Extracellular (Potential).|LDL-receptor class A 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CTGTGGTCTTCACATTCAGTA 0.498 NA 11 51 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 22015908 22015908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:22015908C>T uc001rfi.1 - 18 2338 c.2318G>A c.(2317-2319)GGA>GAA p.G773E ABCC9_uc001rfh.2_Missense_Mutation_p.G773E|ABCC9_uc001rfj.1_Missense_Mutation_p.G737E NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 773 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAAAGGACTTCCAAAAGTAAT 0.343 NA 5 27 0 0 0 0 TSPAN11 441631 broad.mit.edu 37 12 31116785 31116785 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:31116785G>A uc010sju.1 + 3 489 c.109G>A c.(109-111)GTG>ATG p.V37M TSPAN11_uc001rjp.2_Missense_Mutation_p.V37M|TSPAN11_uc010sjv.1_Missense_Mutation_p.V27M NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 37 Helical; (Potential). integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CGTCCTGGCTGTGGGCATCTG 0.577 NA 20 52 0 0 0 0 ABCD2 225 broad.mit.edu 37 12 39947792 39947792 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:39947792C>G uc001rmb.2 - 10 2571 c.2145G>C c.(2143-2145)CAG>CAC p.Q715H NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 715 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 CATTGAGTCTCTGCTGCATTT 0.343 NA 6 37 0 0 0 0 ADCY6 112 broad.mit.edu 37 12 49171950 49171950 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:49171950G>C uc001rsh.3 - 2 1615 c.955C>G c.(955-957)CAG>GAG p.Q319E ADCY6_uc001rsj.3_Missense_Mutation_p.Q319E|ADCY6_uc001rsi.3_Missense_Mutation_p.Q319E NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 319 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CGGGTCTCCTGAAAGGCCTGG 0.632 NA 5 18 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50027427 50027427 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:50027427C>G uc001rur.1 + 8 586 c.522C>G c.(520-522)GTC>GTG p.V174V PRPF40B_uc001rup.1_Silent_p.V196V|PRPF40B_uc001ruq.1_Silent_p.V168V|PRPF40B_uc001rus.1_Silent_p.V117V NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 174 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CAGTTCTAGTCAAACAAGAGG 0.537 NA 4 46 0 0 0 0 KRT74 121391 broad.mit.edu 37 12 52967185 52967185 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:52967185T>C uc001sap.1 - 1 425 c.377A>G c.(376-378)AAC>AGC p.N126S NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 126 Head. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CAGCTCCACGTTGAGGGGGGC 0.597 NA 26 65 0 0 0 0 ESYT1 23344 broad.mit.edu 37 12 56531676 56531676 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:56531676G>C uc001sjq.2 + 19 2226 c.2176G>C c.(2176-2178)GAC>CAC p.D726H ESYT1_uc001sjr.2_Missense_Mutation_p.D736H NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 726 C2 3. integral to membrane ovary(4)|skin(1) 5 CAAGGACTTGGACAAGGATGA 0.488 NA 18 53 0 0 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018660 58018660 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:58018660C>T uc001spe.2 + 10 1550 c.1239C>T c.(1237-1239)GTC>GTT p.V413V SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 413 STAS. integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TCCTCCAGGTCCCGGGGCTCT 0.587 NA 19 69 0 0 0 0 MSRB3 253827 broad.mit.edu 37 12 65722331 65722331 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:65722331C>T uc001ssn.2 + 3 293 c.232C>T c.(232-234)CAC>TAC p.H78Y MSRB3_uc001ssm.2_Missense_Mutation_p.H71Y|MSRB3_uc009zqp.2_Missense_Mutation_p.H71Y NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 isoform 1 78 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) ATACACACATCACAAAGATCC 0.299 NA 9 46 0 0 0 0 CAND1 55832 broad.mit.edu 37 12 67699870 67699870 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:67699870C>T uc001stn.2 + 10 2859 c.2422C>T c.(2422-2424)CGA>TGA p.R808* CAND1_uc001sto.2_Nonsense_Mutation_p.R318* NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 808 HEAT 18. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGCCCTTACTCGAGCATGCCC 0.443 NA 31 50 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70983837 70983837 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:70983837C>T uc001swb.3 - 6 1333 c.1303G>A c.(1303-1305)GAC>AAC p.D435N PTPRB_uc010sto.1_Missense_Mutation_p.D435N|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Missense_Mutation_p.D653N|PTPRB_uc001swa.3_Missense_Mutation_p.D653N|PTPRB_uc001swd.3_Missense_Mutation_p.D652N|PTPRB_uc009zrr.1_Missense_Mutation_p.D532N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 435 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCCCCGTGTCATCCATGACA 0.493 NA OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 102 0 0 0 0 KCNC2 3747 broad.mit.edu 37 12 75444683 75444683 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:75444683G>A uc001sxg.1 - 3 1646 c.1102C>T c.(1102-1104)CTG>TTG p.L368L KCNC2_uc009zry.2_Silent_p.L368L|KCNC2_uc001sxe.2_Silent_p.L368L|KCNC2_uc001sxf.2_Silent_p.L368L|KCNC2_uc010stw.1_Silent_p.L368L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 368 Helical; Voltage-sensor; Name=Segment S4; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AGCACCCTCAGACCTACAAAA 0.438 NA 19 25 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81613830 81613830 + Silent SNP C C A rs142377880 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:81613830C>A uc001szl.1 + 11 1580 c.1489C>A c.(1489-1491)CGG>AGG p.R497R ACSS3_uc001szm.1_Silent_p.R496R|ACSS3_uc001szn.1_Silent_p.R179R NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 497 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 ACTGAAGGCTCGGTGTTTAGG 0.269 NA 7 48 4.69e-08 5.03e-08 1 0 FGD6 55785 broad.mit.edu 37 12 95478362 95478362 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:95478362C>G uc001tdp.3 - 20 4392 c.4168G>C c.(4168-4170)GAG>CAG p.E1390Q FGD6_uc009zsx.2_Missense_Mutation_p.E523Q NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1390 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.E1390D(1) ovary(2)|breast(1) 3 TCGGAATTCTCATCTTTAACT 0.343 NA 25 39 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109613984 109613984 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:109613984G>C uc001tob.2 + 9 1472 c.1353G>C c.(1351-1353)TTG>TTC p.L451F ACACB_uc001toc.2_Missense_Mutation_p.L451F NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 451 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GTTTTCCATTGATGATCAAAG 0.512 NA 119 164 0 0 0 0 IFT81 28981 broad.mit.edu 37 12 110628776 110628776 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:110628776G>C uc001tqi.2 + 13 1520 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q IFT81_uc001tqh.2_Missense_Mutation_p.E464Q|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 464 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 CACCCAAGAAGAGCTAGAAAG 0.338 NA 20 48 0 0 0 0 FBXO21 23014 broad.mit.edu 37 12 117603392 117603392 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:117603392C>T uc001twk.2 - 9 1263 c.1224G>A c.(1222-1224)CTG>CTA p.L408L FBXO21_uc001twj.2_Silent_p.L408L|FBXO21_uc009zwq.2_Silent_p.L348L|FBXO21_uc001twl.1_Silent_p.L21L NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 408 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GCGAGTCTCTCAGGAGCTGGT 0.507 NA 7 59 0 0 0 0 P2RX4 5025 broad.mit.edu 37 12 121670829 121670829 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:121670829C>T uc001tzr.2 + 11 1378 c.1074C>T c.(1072-1074)CTC>CTT p.L358L P2RX4_uc009zxc.2_Silent_p.L331L|P2RX4_uc001tzs.2_Silent_p.L374L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.L257L NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 358 Helical; Name=2; (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCATAGTCCTCTACTGCATGA 0.507 NA 21 232 0 0 0 0 P2RX4 5025 broad.mit.edu 37 12 121670850 121670850 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:121670850C>G uc001tzr.2 + 11 1399 c.1095C>G c.(1093-1095)CTC>CTG p.L365L P2RX4_uc009zxc.2_Silent_p.L338L|P2RX4_uc001tzs.2_Silent_p.L381L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.L264L NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 365 Cytoplasmic (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAAAAGACTCTACTATCGGG 0.512 NA 18 202 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125398224 125398224 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:125398224C>G uc001ugs.3 - 2 542 c.94G>C c.(94-96)GAT>CAT p.D32H UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.D32H|UBC_uc001ugt.2_Missense_Mutation_p.D32H|UBC_uc001ugv.2_Missense_Mutation_p.D32H|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 32 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCTTCCTTATCTTGGATCTTT 0.502 NA 13 175 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569056 129569056 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:129569056G>C uc009zyl.1 - 6 1963 c.1635C>G c.(1633-1635)ATC>ATG p.I545M TMEM132D_uc001uia.2_Missense_Mutation_p.I83M NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 545 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGCTGGAGACGATGGGCACTC 0.517 NA 5 11 0 0 0 0 GJA3 2700 broad.mit.edu 37 13 20716822 20716822 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:20716822G>C uc001umx.1 - 2 778 c.606C>G c.(604-606)ATC>ATG p.I202M NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN connexin 46 202 Helical; (Potential). cell-cell signaling|visual perception connexon complex|integral to membrane pancreas(1) 1 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AGATGATGAAGATGGTCTTCT 0.612 NA 13 36 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23912713 23912713 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:23912713G>C uc001uon.2 - 10 5891 c.5302C>G c.(5302-5304)CAC>GAC p.H1768D SACS_uc001uoo.2_Missense_Mutation_p.H1621D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1768 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACACATGGTGAAATTCTTCC 0.443 NA 22 140 0 0 0 0 PARP4 143 broad.mit.edu 37 13 25026704 25026704 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:25026704C>T uc001upl.2 - 24 2960 c.2854G>A c.(2854-2856)GAC>AAC p.D952N PARP4_uc010tdc.1_Missense_Mutation_p.D952N NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 952 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTCCAGAAGTCTGTGTTCCCC 0.488 NA 20 62 0 0 0 0 ATP8A2 51761 broad.mit.edu 37 13 26125501 26125501 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:26125501G>C uc001uqk.2 + 11 1059 c.917G>C c.(916-918)AGA>ACA p.R306T ATP8A2_uc010tdi.1_Missense_Mutation_p.R266T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.R266T NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 266 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCTCTCAAGAGATCAAATGTT 0.507 NA 9 33 0 0 0 0 MTIF3 219402 broad.mit.edu 37 13 28009980 28009980 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:28009980G>C uc001urh.2 - 3 1893 c.669C>G c.(667-669)TTC>TTG p.F223L MTIF3_uc001uri.2_Missense_Mutation_p.F223L|MTIF3_uc001urj.2_Missense_Mutation_p.F223L|MTIF3_uc001urk.2_Missense_Mutation_p.F223L NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 223 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity ovary(1)|skin(1) 2 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) GCCTAGATGAGAATGTAGCTA 0.383 NA 19 61 0 0 0 0 C13orf33 84935 broad.mit.edu 37 13 31495235 31495235 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:31495235C>T uc001uth.3 + 3 814 c.473C>T c.(472-474)TCA>TTA p.S158L uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 158 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) GTCATCTCCTCAGTGATTGGA 0.483 NA 4 22 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 35751193 35751193 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:35751193C>T uc001uvb.2 + 28 4821 c.4615C>T c.(4615-4617)CAG>TAG p.Q1539* NBEA_uc010abi.2_Nonsense_Mutation_p.Q227* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1539 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGACTTCTTCAGGATGTTGA 0.363 NA 3 8 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42876840 42876840 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:42876840C>G uc001uys.1 + 8 4133 c.3958C>G c.(3958-3960)CTT>GTT p.L1320V NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1320 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCCGTTTATTCTTTCATTACC 0.398 NA 5 45 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46733075 46733075 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:46733075G>C uc001vaz.3 - 3 240 c.114C>G c.(112-114)TTC>TTG p.F38L LCP1_uc001vba.3_Missense_Mutation_p.F38L NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 38 EF-hand 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) AAGCAGCCTTGAACAAGTCAT 0.433 NA T BCL6 NHL 31 90 0 0 0 0 SUCLA2 8803 broad.mit.edu 37 13 48563043 48563043 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:48563043G>A uc001vbs.2 - 3 402 c.345C>T c.(343-345)CTC>CTT p.L115L SUCLA2_uc010tgb.1_Silent_p.L55L|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Silent_p.L55L|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Silent_p.L115L NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 115 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) CTCCTCCTTTGAGGCCACTTT 0.328 NA 37 118 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58207078 58207078 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:58207078C>G uc001vhq.1 + 1 1290 c.398C>G c.(397-399)TCC>TGC p.S133C PCDH17_uc010aec.1_Missense_Mutation_p.S133C NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 133 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCTCCTTCTCCTCGGACCAG 0.612 NA 6 11 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77633702 77633702 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:77633702C>T uc001vkf.2 - 78 13073 c.12982G>A c.(12982-12984)GAG>AAG p.E4328K MYCBP2_uc010aev.2_Missense_Mutation_p.E3732K|MYCBP2_uc001vke.2_Missense_Mutation_p.E945K NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCAGATAACTCTGTTCCACTC 0.463 NA 8 67 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77699528 77699528 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:77699528C>G uc001vkf.2 - 55 7937 c.7846G>C c.(7846-7848)GAG>CAG p.E2616Q MYCBP2_uc010aev.2_Missense_Mutation_p.E2020Q|MYCBP2_uc001vkg.1_Missense_Mutation_p.E79Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GACCATGCCTCTCCTTCATCA 0.433 NA 43 162 0 0 0 0 COL4A2 1284 broad.mit.edu 37 13 111077163 111077163 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:111077163G>A uc001vqx.2 + 5 552 c.263G>A c.(262-264)GGA>GAA p.G88E NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 88 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGACGTAAAGGAGACAAGGGT 0.627 NA 13 41 0 0 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114079395 114079395 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:114079395T>C uc001vtq.1 - 5 833 c.746A>G c.(745-747)GAC>GGC p.D249G ADPRHL1_uc001vtp.1_Missense_Mutation_p.D167G NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 249 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) ATCATAATTGTCGGGGAAGAT 0.299 NA 15 69 0 0 0 0 RASA3 22821 broad.mit.edu 37 13 114781703 114781703 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:114781703C>T uc001vui.2 - 13 1382 c.1251G>A c.(1249-1251)TTG>TTA p.L417L RASA3_uc010tkk.1_Silent_p.L385L|RASA3_uc001vuj.2_Silent_p.L34L NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 417 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTCCGTCTTTCAACTTCACAG 0.517 NA 10 44 0 0 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745036 23745036 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:23745036C>T uc001wja.2 - 2 1549 c.1401G>A c.(1399-1401)GAG>GAA p.E467E HOMEZ_uc001wjb.2_Silent_p.E469E NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 467 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CCCAGTACCTCTCCAAGGGTT 0.552 NA 6 31 0 0 0 0 L2HGDH 79944 broad.mit.edu 37 14 50734600 50734600 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:50734600C>T uc001wxu.2 - 8 1014 c.935G>A c.(934-936)GGA>GAA p.G312E L2HGDH_uc010tqn.1_Missense_Mutation_p.G312E|L2HGDH_uc010tqo.1_Missense_Mutation_p.G312E NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 312 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) GAAGTGAACTCCTAGGAAAGG 0.423 NA 27 65 0 0 0 0 DAAM1 23002 broad.mit.edu 37 14 59821922 59821922 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:59821922C>T uc001xdz.1 + 21 2551 c.2426C>T c.(2425-2427)GCC>GTC p.A809V DAAM1_uc001xea.1_Missense_Mutation_p.A799V|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 809 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) AGGAGTGGTGCCCTCAAGCAG 0.378 NA 40 118 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64691209 64691209 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:64691209G>C uc001xgm.2 + 113 20574 c.20344G>C c.(20344-20346)GAG>CAG p.E6782Q SYNE2_uc001xgl.2_Missense_Mutation_p.E6805Q|SYNE2_uc010apy.2_Missense_Mutation_p.E3167Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E1744Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E752Q|SYNE2_uc001xgq.2_Missense_Mutation_p.E1161Q|SYNE2_uc001xgr.2_Missense_Mutation_p.E565Q|SYNE2_uc010tsi.1_Missense_Mutation_p.E439Q|SYNE2_uc001xgs.2_Missense_Mutation_p.E453Q|SYNE2_uc001xgt.2_Missense_Mutation_p.E327Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6782 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGCTTCGACGAGGTAGACTC 0.517 NA 9 83 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70518823 70518823 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:70518823C>G uc001xly.2 - 5 2669 c.1915G>C c.(1915-1917)GAC>CAC p.D639H SLC8A3_uc001xlu.2_5'UTR|SLC8A3_uc001xlv.2_Missense_Mutation_p.D10H|SLC8A3_uc001xlw.2_Splice_Site_p.D636_splice|SLC8A3_uc001xlx.2_Splice_Site_p.D637_splice|SLC8A3_uc001xlz.2_Missense_Mutation_p.D633H|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_5'UTR NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 639 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGCTTCCTGTCTGTCACATCT 0.458 NA 24 59 0 0 0 0 YLPM1 56252 broad.mit.edu 37 14 75279341 75279341 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:75279341G>C uc001xqj.3 + 11 5482 c.5358G>C c.(5356-5358)AGG>AGC p.R1786S YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R269S NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAGAACGAAGGACTTATCCTG 0.443 NA 5 8 0 0 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319682 77319682 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:77319682G>C uc001xsx.2 + 9 1051 c.937G>C c.(937-939)GAC>CAC p.D313H C14orf166B_uc010asn.1_Missense_Mutation_p.D73H|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 313 LRR 7. 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CGGTGGCAATGACATCGGCAA 0.507 NA 12 36 0 0 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319694 77319694 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:77319694G>A uc001xsx.2 + 9 1063 c.949G>A c.(949-951)GAA>AAA p.E317K C14orf166B_uc010asn.1_Missense_Mutation_p.E77K|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 317 LRR 7. 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CATCGGCAATGAAGGGGCCTC 0.478 NA 7 26 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88935898 88935898 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:88935898G>T uc001xwv.3 - 17 3511 c.3180C>A c.(3178-3180)CTC>CTA p.L1060L PTPN21_uc010twc.1_Silent_p.L856L NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 1060 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 CTGTGTATTGGAGGTGCCAGA 0.537 NA 5 53 2.77e-08 2.98e-08 1 0 C14orf184 650662 broad.mit.edu 37 14 92040776 92040776 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:92040776C>T uc010aua.1 - 1 608 c.181G>A c.(181-183)GAG>AAG p.E61K NM_001080113 NP_001073582 Q8WYT3 CN184_HUMAN hypothetical protein LOC650662 61 0 AGCCGCCGCTCGGGTGTACTG 0.657 NA 5 8 0 0 0 0 DDX24 57062 broad.mit.edu 37 14 94528623 94528623 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:94528623C>G uc001ycj.2 - 3 1162 c.1063G>C c.(1063-1065)GAG>CAG p.E355Q DDX24_uc010twq.1_Missense_Mutation_p.E312Q|DDX24_uc010twr.1_Missense_Mutation_p.E105Q NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 355 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCCTCATTCTCATTCTGTTTG 0.483 NA 23 70 0 0 0 0 SETD3 84193 broad.mit.edu 37 14 99929847 99929847 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:99929847C>G uc001ygc.2 - 3 342 c.172G>C c.(172-174)GAG>CAG p.E58Q SETD3_uc001ygd.2_Missense_Mutation_p.E58Q|SETD3_uc001ygf.2_Missense_Mutation_p.E58Q NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 58 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CGTATTTTCTCAACCAGAGTC 0.413 NA 4 22 0 0 0 0 EML1 2009 broad.mit.edu 37 14 100405558 100405558 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100405558G>A uc001ygs.2 + 21 2285 c.2216G>A c.(2215-2217)GGA>GAA p.G739E EML1_uc010tww.1_Missense_Mutation_p.G727E|EML1_uc001ygr.2_Missense_Mutation_p.G758E NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 739 WD 10. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) GGCTCGGACGGAACCGACATC 0.587 NA 4 40 0 0 0 0 EML1 2009 broad.mit.edu 37 14 100405590 100405590 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100405590G>C uc001ygs.2 + 21 2317 c.2248G>C c.(2248-2250)GAG>CAG p.E750Q EML1_uc010tww.1_Missense_Mutation_p.E738Q|EML1_uc001ygr.2_Missense_Mutation_p.E769Q NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 750 WD 10. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCGGGCCCATGAGAAGAAACT 0.537 NA 4 33 0 0 0 0 C14orf68 283600 broad.mit.edu 37 14 100789775 100789775 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100789775C>T uc001yhc.2 + 1 97 c.24C>T c.(22-24)ATC>ATT p.I8I C14orf68_uc001yhd.2_5'UTR NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 8 Solcar 1.|Helical; Name=1; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) CTGGAGCCATCGGAGGTAACA 0.627 NA 13 17 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102455173 102455173 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:102455173G>C uc001yks.2 + 10 3016 c.2852G>C c.(2851-2853)GGA>GCA p.G951A NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 951 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AAGCCTGGTGGAGAGCCAAAG 0.398 NA 11 30 0 0 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549502 102549502 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:102549502C>T uc001yku.3 - 9 1814 c.1624G>A c.(1624-1626)GTG>ATG p.V542M HSP90AA1_uc001ykv.3_Missense_Mutation_p.V664M|HSP90AA1_uc001ykw.1_Missense_Mutation_p.V363M|HSP90AA1_uc001ykx.1_Missense_Mutation_p.V531M NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 542 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) GTGACTGACACTAAAGTCTTC 0.274 NA 22 77 0 0 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103596165 103596165 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:103596165G>A uc001ymm.1 + 3 1080 c.949G>A c.(949-951)GAG>AAG p.E317K TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Intron|TNFAIP2_uc010tya.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 317 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) CCGACTGCTGGAGGCCACATT 0.662 NA 7 19 0 0 0 0 KLC1 3831 broad.mit.edu 37 14 104129155 104129155 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:104129155G>A uc001yno.2 + 5 996 c.688G>A c.(688-690)GAG>AAG p.E230K KLC1_uc010tyd.1_Missense_Mutation_p.E389K|KLC1_uc010tye.1_Missense_Mutation_p.E226K|KLC1_uc001ynm.1_Missense_Mutation_p.E230K|KLC1_uc001ynn.1_Missense_Mutation_p.E226K|KLC1_uc010tyf.1_Missense_Mutation_p.E230K NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 230 TPR 1. blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) GGGGCGCTACGAGGTAGCTGT 0.672 NA 9 19 0 0 0 0 OIP5 11339 broad.mit.edu 37 15 41602045 41602045 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:41602045C>G uc001znp.2 - 5 657 c.597G>C c.(595-597)CTG>CTC p.L199L NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 199 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) TCTTCTCTTTCAGCTAGGAAG 0.274 NA 20 54 0 0 0 0 CKMT1B 1159 broad.mit.edu 37 15 43891383 43891383 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:43891383G>C uc001zsc.2 + 10 1558 c.1166G>C c.(1165-1167)GGA>GCA p.G389A CKMT1B_uc010uds.1_Missense_Mutation_p.G420A|CKMT1B_uc001zsd.3_Missense_Mutation_p.G389A|CKMT1B_uc010bdj.2_RNA NM_020990 NP_066270 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B precursor 389 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GTCATCGATGGAGTAAACTAT 0.488 NA 55 119 0 0 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327631 49327631 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:49327631A>G uc001zxe.1 - 3 562 c.428T>C c.(427-429)ATC>ACC p.I143T SECISBP2L_uc001zxd.1_Missense_Mutation_p.I143T|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.I143T NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 143 breast(1)|skin(1) 2 TTCTGTGGTGATAGCATTTAC 0.483 NA 24 95 0 0 0 0 TMOD2 29767 broad.mit.edu 37 15 52069169 52069169 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:52069169C>T uc002abk.2 + 5 668 c.447C>T c.(445-447)TTC>TTT p.F149F TMOD2_uc002abl.3_Silent_p.F149F|TMOD2_uc010bfb.2_Silent_p.F105F NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 149 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) ATCCAAAGTTCGATGAAGAAA 0.413 NA 13 38 0 0 0 0 KIAA1370 56204 broad.mit.edu 37 15 52905993 52905993 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:52905993C>T uc002acg.3 - 3 231 c.78G>A c.(76-78)CTG>CTA p.L26L KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Intron|KIAA1370_uc010ugf.1_Silent_p.L33L NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 26 0 all cancers(107;0.0803) CTTCTGTTATCAGCAAGGCCA 0.408 NA 11 27 0 0 0 0 ZNF609 23060 broad.mit.edu 37 15 64791723 64791723 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:64791723C>T uc002ann.2 + 1 105 c.105C>T c.(103-105)ATC>ATT p.I35I ZNF609_uc010bgy.2_Silent_p.I35I NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 35 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GGAATCTCATCATTGACCTGG 0.547 NA 16 61 0 0 0 0 CLPX 10845 broad.mit.edu 37 15 65458988 65458988 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:65458988G>C uc002aom.2 - 4 566 c.494C>G c.(493-495)CCA>CGA p.P165R CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.P165R NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 165 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 GGGAGGTGGTGGTTTCTGTTG 0.378 NA 52 137 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65499240 65499240 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:65499240C>T uc002aon.2 - 4 485 c.304G>A c.(304-306)GCG>ACG p.A102T NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 102 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GTGCTGCCCGCAGGTGTCCAG 0.627 NA 6 24 0 0 0 0 SMAD3 4088 broad.mit.edu 37 15 67482843 67482843 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:67482843C>T uc002aqj.2 + 9 1545 c.1247C>T c.(1246-1248)TCC>TTC p.S416F SMAD3_uc010ujr.1_Missense_Mutation_p.S311F|SMAD3_uc010ujs.1_Missense_Mutation_p.S372F|SMAD3_uc010ujt.1_Missense_Mutation_p.S221F NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 416 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CAGATGGGCTCCCCAAGCATC 0.547 NA 14 15 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73615835 73615835 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:73615835C>A uc002avp.2 - 8 3593 c.2599G>T c.(2599-2601)GCC>TCC p.A867S NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 867 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CCAGCGGGGGCAGAGAATCCA 0.692 NA 8 38 0.000157383 0.000164885 1 0 HCN4 10021 broad.mit.edu 37 15 73616079 73616079 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:73616079G>A uc002avp.2 - 8 3349 c.2355C>T c.(2353-2355)GCC>GCT p.A785A NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 785 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) TGGTGGCAGCGGCAGCCTGCA 0.701 NA 8 26 0 0 0 0 PML 5371 broad.mit.edu 37 15 74325651 74325651 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:74325651C>T uc002awv.2 + 6 1693 c.1553C>T c.(1552-1554)TCA>TTA p.S518L PML_uc002awm.2_Missense_Mutation_p.S518L|PML_uc002awl.2_Intron|PML_uc002awj.1_Missense_Mutation_p.S470L|PML_uc002awk.2_Missense_Mutation_p.S518L|PML_uc002awn.2_Missense_Mutation_p.S518L|PML_uc002awo.2_Missense_Mutation_p.S470L|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.S518L|PML_uc002awr.2_Missense_Mutation_p.S518L|PML_uc002aws.2_Missense_Mutation_p.S470L|PML_uc002awt.2_Intron|PML_uc002awu.2_Missense_Mutation_p.S470L|PML_uc010ule.1_Missense_Mutation_p.S79L|PML_uc002awx.2_Missense_Mutation_p.S228L|PML_uc002awy.2_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 518 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 AAGGCAGTCTCACCACCCCAC 0.657 NA T RARA|PAX5 APL|ALL 9 28 0 0 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74365132 74365132 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:74365132C>G uc002axa.1 - 13 1493 c.1452G>C c.(1450-1452)CAG>CAC p.Q484H NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 484 Potential. 0 GCTGTTGGTTCTGGTGGCTGG 0.622 NA 5 85 0 0 0 0 SGK269 79834 broad.mit.edu 37 15 77471990 77471990 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:77471990C>T uc002bcm.2 - 3 2587 c.2279G>A c.(2278-2280)AGA>AAA p.R760K SGK269_uc002bcn.2_Missense_Mutation_p.R760K NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 760 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TGCTTTCTCTCTGGTGCTGCT 0.537 NA 32 72 0 0 0 0 CPEB1 64506 broad.mit.edu 37 15 83221346 83221346 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:83221346C>A uc002bit.2 - 8 1416 c.1279G>T c.(1279-1281)GAA>TAA p.E427* CPEB1_uc002biq.2_Nonsense_Mutation_p.E287*|CPEB1_uc002bir.2_Nonsense_Mutation_p.E292*|CPEB1_uc002bis.2_Nonsense_Mutation_p.E287*|CPEB1_uc010uod.1_Nonsense_Mutation_p.E136*|CPEB1_uc010uoe.1_Nonsense_Mutation_p.E365*|CPEB1_uc002biu.2_Nonsense_Mutation_p.E389*|CPEB1_uc010uof.1_Nonsense_Mutation_p.E287*|CPEB1_uc002biv.2_Nonsense_Mutation_p.E362*|CPEB1_uc002bip.2_Nonsense_Mutation_p.E136* NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 367 RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TTCTCTAGTTCGAAGACCAGA 0.493 NA 18 56 4.97e-08 5.32e-08 1 0 POLG 5428 broad.mit.edu 37 15 89862269 89862269 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:89862269C>T uc002bns.3 - 20 3448 c.3166G>A c.(3166-3168)GAA>AAA p.E1056K POLG_uc002bnr.3_Missense_Mutation_p.E1056K NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 1056 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TTGAACATTTCTGACTCTGTG 0.562 NA DNA_polymerases_(catalytic_subunits) 6 93 0 0 0 0 PRC1 9055 broad.mit.edu 37 15 91510405 91510405 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:91510405C>G uc002bqm.2 - 15 1976 c.1819G>C c.(1819-1821)GAT>CAT p.D607H PRC1_uc002bqn.2_Missense_Mutation_p.D593H|PRC1_uc002bqo.2_Nonstop_Mutation_p.*567S|PRC1_uc010uqs.1_Nonstop_Mutation_p.*526S NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 607 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) GAAGTAGCATCAGATTTGGAA 0.448 NA 22 55 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17235129 17235129 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:17235129C>G uc002dfa.2 - 7 1553 c.1468G>C c.(1468-1470)GAT>CAT p.D490H NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 490 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GAACCGCCATCCACGGCAATG 0.567 NA 38 102 0 0 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365574 30365574 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:30365574C>T uc002dxr.2 - 2 401 c.148G>A c.(148-150)GAT>AAT p.D50N CD2BP2_uc002dxs.2_Missense_Mutation_p.D50N NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 50 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 TCCTCCTCATCGCTATCCAAA 0.527 NA 61 189 0 0 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499472 31499472 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:31499472G>C uc002ecf.3 + 8 1018 c.999G>C c.(997-999)ATG>ATC p.M333I SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 333 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TGCCAGGCATGATCAGCCGCA 0.627 NA 24 90 0 0 0 0 OGFOD1 55239 broad.mit.edu 37 16 56492471 56492471 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56492471G>C uc002ejb.2 + 3 413 c.312G>C c.(310-312)TTG>TTC p.L104F OGFOD1_uc002ejc.2_5'UTR NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 104 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) CTGATGATTTGAAGAAGAGAA 0.279 NA 7 31 0 0 0 0 OGFOD1 55239 broad.mit.edu 37 16 56492479 56492479 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56492479G>A uc002ejb.2 + 3 421 c.320G>A c.(319-321)AGA>AAA p.R107K OGFOD1_uc002ejc.2_5'UTR NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 107 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) TTGAAGAAGAGAAGAGAGCCT 0.259 NA 7 31 0 0 0 0 BBS2 583 broad.mit.edu 37 16 56535295 56535295 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56535295G>C uc002ejd.2 - 10 1429 c.1195C>G c.(1195-1197)CAT>GAT p.H399D BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 399 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 AATTCTGTATGAGCAGTTTGG 0.473 NA Bardet-Biedl_syndrome 36 127 0 0 0 0 TEPP 374739 broad.mit.edu 37 16 58019836 58019836 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58019836C>G uc002emw.3 + 7 813 c.776C>G c.(775-777)TCC>TGC p.S259C TEPP_uc002emv.3_Missense_Mutation_p.S286C NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 259 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 AGCTTCGGCTCCAGCTACAGG 0.652 NA 8 46 0 0 0 0 CCDC113 29070 broad.mit.edu 37 16 58296295 58296295 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58296295G>C uc002ene.2 + 6 713 c.634G>C c.(634-636)GAG>CAG p.E212Q CCDC113_uc010vid.1_Missense_Mutation_p.E158Q NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 212 Potential. protein complex 0 GTAGAAGGAAGAGGTGAGTGA 0.418 NA 29 94 0 0 0 0 GOT2 2806 broad.mit.edu 37 16 58757719 58757719 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58757719C>G uc002eof.1 - 2 291 c.177G>C c.(175-177)AAG>AAC p.K59N GOT2_uc010vim.1_Missense_Mutation_p.K59N NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 59 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCAGATTCATCTTTTTGCTAT 0.493 NA 41 137 0 0 0 0 LRRC36 55282 broad.mit.edu 37 16 67405069 67405069 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:67405069G>C uc002esv.2 + 9 1437 c.1418G>C c.(1417-1419)AGA>ACA p.R473T LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.R205T|LRRC36_uc002esx.2_Missense_Mutation_p.R352T|LRRC36_uc010vjk.1_Missense_Mutation_p.R352T|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 isoform 1 473 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CCATCGAAGAGAGGATTCAAA 0.468 NA 23 90 0 0 0 0 FAM65A 79567 broad.mit.edu 37 16 67573997 67573997 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:67573997C>T uc010vjp.1 + 7 612 c.516C>T c.(514-516)CTC>CTT p.L172L FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Silent_p.L152L|FAM65A_uc010cej.2_Silent_p.L155L|FAM65A_uc002eti.1_Silent_p.L115L|FAM65A_uc010vjq.1_Silent_p.L166L|FAM65A_uc002etj.1_Silent_p.L151L|FAM65A_uc002etk.2_Silent_p.L151L NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 156 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGCGGCGTCTCCGGGATGGTG 0.637 NA 30 72 0 0 0 0 HAS3 3038 broad.mit.edu 37 16 69148496 69148496 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:69148496G>A uc010cfh.2 + 4 1213 c.989G>A c.(988-990)CGA>CAA p.R330Q HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.R330Q NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 330 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CTTGGCTACCGAACTAAGTAT 0.582 NA 16 40 0 0 0 0 COG4 25839 broad.mit.edu 37 16 70553601 70553601 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:70553601C>G uc002ezc.2 - 2 216 c.205G>C c.(205-207)GAA>CAA p.E69Q COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E69Q|COG4_uc002eze.2_Intron NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 65 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TTTTGCTGTTCCAAAAGAGCA 0.378 NA 4 24 0 0 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451158 87451158 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:87451158G>C uc002fjz.1 - 8 907 c.880C>G c.(880-882)CAG>GAG p.Q294E ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.Q70E NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 294 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) TCCTGGGTCTGAGGGGTCTGC 0.572 NA 46 132 0 0 0 0 CPNE7 27132 broad.mit.edu 37 16 89655212 89655212 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:89655212G>A uc002fnp.2 + 12 1412 c.1282G>A c.(1282-1284)GAC>AAC p.D428N CPNE7_uc002fnq.2_Missense_Mutation_p.D353N NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 428 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCAGGACTATGACAGGTGCGC 0.642 NA 13 26 0 0 0 0 VPS53 55275 broad.mit.edu 37 17 455171 455171 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:455171G>A uc002frn.2 - 17 1954 c.1807C>T c.(1807-1809)CAG>TAG p.Q603* VPS53_uc002frk.2_Nonsense_Mutation_p.Q122*|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q603*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q574*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q405*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q326* NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 603 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ACCAGCAGCTGAATACTGCTG 0.502 NA 5 9 0 0 0 0 GEMIN4 50628 broad.mit.edu 37 17 649539 649539 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:649539G>C uc002frs.1 - 2 1863 c.1744C>G c.(1744-1746)CTC>GTC p.L582V NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 582 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) AAGGCAGTGAGAATCTGGGCC 0.547 NA 16 41 0 0 0 0 OR1A1 8383 broad.mit.edu 37 17 3119610 3119610 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:3119610C>T uc010vrc.1 + 1 696 c.696C>T c.(694-696)GGC>GGT p.G232G NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCACCAAGGGCGTGCTCAAGG 0.483 NA 35 108 0 0 0 0 YBX2 51087 broad.mit.edu 37 17 7192869 7192869 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7192869G>A uc002gfq.2 - 7 1081 c.1024C>T c.(1024-1026)CGG>TGG p.R342W NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 342 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 GCGGGCTGCCGGGGGCCAGGG 0.667 NA 6 11 0 0 0 0 NEURL4 84461 broad.mit.edu 37 17 7228995 7228995 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7228995G>C uc002gga.1 - 7 1338 c.1331C>G c.(1330-1332)TCT>TGT p.S444C NEURL4_uc002ggb.1_Missense_Mutation_p.S444C|NEURL4_uc002ggc.1_5'UTR NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 444 NHR 2. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GTGTAGGGCAGAGTTGGACTT 0.567 NA 25 86 0 0 0 0 FXR2 9513 broad.mit.edu 37 17 7496331 7496331 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7496331G>A uc002gia.1 - 13 1726 c.1499C>T c.(1498-1500)TCG>TTG p.S500L SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related 500 cytosolic large ribosomal subunit protein binding|RNA binding 0 READ - Rectum adenocarcinoma(115;0.17) ATTGTATCTCGAAGTGGGCCG 0.617 NA 10 44 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7752247 7752247 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7752247G>A uc002giw.1 + 11 3017 c.2641G>A c.(2641-2643)GAG>AAG p.E881K KDM6B_uc002gix.2_Missense_Mutation_p.E183K NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 881 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CTGGGCCCGGGAGCGCAGGGC 0.716 NA 4 11 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7753196 7753196 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7753196G>A uc002giw.1 + 12 3874 c.3498G>A c.(3496-3498)GTG>GTA p.V1166V KDM6B_uc002gix.2_Silent_p.V468V NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1166 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CCCAGTCTGTGAAACCGAAGA 0.532 NA 40 120 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 15942786 15942786 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:15942786C>T uc002gpo.2 - 44 7156 c.6916G>A c.(6916-6918)GAG>AAG p.E2306K NCOR1_uc002gpn.2_Missense_Mutation_p.E2203K|NCOR1_uc002gpl.2_Missense_Mutation_p.E321K|NCOR1_uc002gpm.2_Missense_Mutation_p.E826K|NCOR1_uc010vwb.1_Missense_Mutation_p.E890K|NCOR1_uc010coy.2_Missense_Mutation_p.E1214K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2306 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTCGTGTCTCACCACTGGTC 0.483 NA 7 36 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 16029434 16029434 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:16029434C>G uc002gpo.2 - 15 1836 c.1596G>C c.(1594-1596)AAG>AAC p.K532N NCOR1_uc002gpn.2_Missense_Mutation_p.K532N|NCOR1_uc002gpp.1_Missense_Mutation_p.K423N|NCOR1_uc002gpr.2_Missense_Mutation_p.K423N|NCOR1_uc002gps.1_Missense_Mutation_p.K541N|NCOR1_uc010coz.1_Missense_Mutation_p.K348N|NCOR1_uc010cpb.1_Missense_Mutation_p.K542N|NCOR1_uc010cpa.1_Missense_Mutation_p.K533N NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 532 Potential. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) cttcatctttcttttcttctt 0.114 NA 3 7 0 0 0 0 SREBF1 6720 broad.mit.edu 37 17 17719301 17719301 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:17719301C>G uc002gru.1 - 12 2450 c.2256G>C c.(2254-2256)CAG>CAC p.Q752H SREBF1_uc002grp.1_Missense_Mutation_p.Q371H|SREBF1_uc002grq.1_Missense_Mutation_p.Q271H|SREBF1_uc002grr.1_Missense_Mutation_p.Q498H|SREBF1_uc002grs.1_Missense_Mutation_p.Q728H|SREBF1_uc002grt.1_Missense_Mutation_p.Q782H|MIR33B_hsa-mir-33b|MI0003646_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 752 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CTGAGCCACTCTGTGCCAGGC 0.667 NA 5 43 0 0 0 0 SMCR8 140775 broad.mit.edu 37 17 18220060 18220060 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:18220060G>A uc002gsy.3 + 1 1467 c.957G>A c.(955-957)TTG>TTA p.L319L NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 319 central_nervous_system(1) 1 ACAAGAAGTTGAAGACCTTGG 0.493 NA 18 55 0 0 0 0 NOS2 4843 broad.mit.edu 37 17 26114730 26114730 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:26114730G>A uc002gzu.2 - 5 705 c.441C>T c.(439-441)GTC>GTT p.V147V NOS2_uc010crh.1_Silent_p.V147V|NOS2_uc010wab.1_Silent_p.V147V NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 147 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AATATTGGTTGACAAATTCGA 0.537 NA 23 82 0 0 0 0 SGK494 124923 broad.mit.edu 37 17 26940613 26940613 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:26940613C>T uc002hbr.1 - 2 201 c.169G>A c.(169-171)GAA>AAA p.E57K SGK494_uc010waq.1_Missense_Mutation_p.E57K|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron NM_144610 NP_653211 uncharacterized serine/threonine-protein kinase 0 CCCCGTAGTTCCCAGAGTTCT 0.582 NA OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 81 0 0 0 0 CCDC55 84081 broad.mit.edu 37 17 28506198 28506198 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:28506198G>C uc002heu.2 + 5 419 c.391G>C c.(391-393)GAA>CAA p.E131Q CCDC55_uc002hev.2_Missense_Mutation_p.E77Q|CCDC55_uc010wbl.1_Missense_Mutation_p.E77Q|CCDC55_uc010wbm.1_Missense_Mutation_p.E77Q|CCDC55_uc002hex.2_Missense_Mutation_p.E77Q NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 131 Necessary for alternative splicing activity.|Potential. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 GAGAGAACGAGAAATGGAAAA 0.353 NA 5 19 0 0 0 0 GGNBP2 79893 broad.mit.edu 37 17 34937844 34937844 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:34937844G>A uc002hnb.2 + 9 1340 c.1091G>A c.(1090-1092)CGA>CAA p.R364Q GGNBP2_uc002hna.2_Missense_Mutation_p.R364Q|GGNBP2_uc002hnc.1_Missense_Mutation_p.R193Q NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 364 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAAGAGGAACGAGTAAGAGAA 0.368 NA 29 60 0 0 0 0 CDC6 990 broad.mit.edu 37 17 38450695 38450695 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:38450695G>C uc002huj.1 + 7 1233 c.1023G>C c.(1021-1023)TTG>TTC p.L341F NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 341 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 CACAGCTGTTGAACTTCCCAC 0.398 NA 20 70 0 0 0 0 KRT10 3858 broad.mit.edu 37 17 38978336 38978336 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:38978336C>A uc002hvi.2 - 1 528 c.502G>T c.(502-504)GAA>TAA p.E168* KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 168 Coil 1A.|Rod.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) TTTGATTCTTCCAGAGCCCGA 0.438 NA 32 109 1.56e-20 1.7e-20 1 0 FKBP10 60681 broad.mit.edu 37 17 39975508 39975508 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:39975508G>C uc002hxv.2 + 5 1099 c.774G>C c.(772-774)CTG>CTC p.L258L FKBP10_uc002hxw.1_5'UTR NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 258 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) ACGTCCTCCTGATTGACGTGC 0.632 NA 27 73 0 0 0 0 KCNH4 23415 broad.mit.edu 37 17 40318431 40318431 + Missense_Mutation SNP G G A rs140560707 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40318431G>A uc002hzb.2 - 10 2057 c.1724C>T c.(1723-1725)TCG>TTG p.S575L NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 575 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGCGCAGAACGAGGTCTTGAT 0.622 NA 4 24 0 0 0 0 KCNH4 23415 broad.mit.edu 37 17 40318439 40318439 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40318439G>C uc002hzb.2 - 10 2049 c.1716C>G c.(1714-1716)ATC>ATG p.I572M NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 572 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGAGGTCTTGATGTGCAGCG 0.627 NA 5 21 0 0 0 0 STAT5B 6777 broad.mit.edu 37 17 40362425 40362425 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40362425C>T uc002hzh.2 - 14 1940 c.1771G>A c.(1771-1773)GAT>AAT p.D591N NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 591 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCTCACCCATCATTCCAATGA 0.448 NA 19 87 0 0 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40843231 40843231 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40843231C>G uc002iay.2 + 14 2352 c.2136C>G c.(2134-2136)ATC>ATG p.I712M CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 712 Extracellular (Potential).|Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGCCTGGGATCCAGCGCTGTG 0.617 NA 13 95 0 0 0 0 ADAM11 4185 broad.mit.edu 37 17 42855094 42855094 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:42855094G>A uc002ihh.2 + 23 1933 c.1933G>A c.(1933-1935)GAC>AAC p.D645N ADAM11_uc010wjd.1_Missense_Mutation_p.D445N|ADAM11_uc002ihi.2_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 645 Cys-rich.|Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GGACGGCTCTGACCTGAGCTA 0.642 NA 9 31 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43159088 43159088 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43159088G>A uc002ihz.2 + 2 226 c.208G>A c.(208-210)GAG>AAG p.E70K NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 70 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) aaaaGGCAGTGAGACAGATTC 0.348 NA 7 8 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43159090 43159090 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43159090G>A uc002ihz.2 + 2 228 c.210G>A c.(208-210)GAG>GAA p.E70E NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 70 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) aaGGCAGTGAGACAGATTCAG 0.348 NA 5 7 0 0 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364681 43364681 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43364681C>A uc002iiw.1 - 4 485 c.376G>T c.(376-378)GAG>TAG p.E126* MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 126 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 ATTTTGCCCTCTGTAGCATGG 0.493 NA 7 31 0.000157383 0.000164885 1 0 CALCOCO2 10241 broad.mit.edu 37 17 46926688 46926688 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:46926688C>A uc002iof.2 + 5 571 c.492C>A c.(490-492)ATC>ATA p.I164I CALCOCO2_uc010wlp.1_Silent_p.I185I|CALCOCO2_uc010wlq.1_Silent_p.I92I|CALCOCO2_uc010wlr.1_Silent_p.I188I|CALCOCO2_uc010wls.1_Intron NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 164 Potential. response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 ACAGCTGTATCAGCCTCCAGA 0.473 NA 32 72 2.68e-12 2.9e-12 1 0 ZNF652 22834 broad.mit.edu 37 17 47388699 47388699 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:47388699G>A uc002iov.3 - 5 1748 c.1284C>T c.(1282-1284)TTC>TTT p.F428F ZNF652_uc002iow.2_Silent_p.F428F|ZNF652_uc002iou.3_RNA NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 428 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TGTGTTCGTCGAAGTACTGCT 0.423 NA 24 79 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646576 48646576 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:48646576G>C uc002irk.1 + 3 777 c.405G>C c.(403-405)AAG>AAC p.K135N CACNA1G_uc002iri.1_Missense_Mutation_p.K135N|CACNA1G_uc002irj.1_Missense_Mutation_p.K135N|CACNA1G_uc002irl.1_Missense_Mutation_p.K135N|CACNA1G_uc002irm.1_Missense_Mutation_p.K135N|CACNA1G_uc002irn.1_Missense_Mutation_p.K135N|CACNA1G_uc002iro.1_Missense_Mutation_p.K135N|CACNA1G_uc002irp.1_Missense_Mutation_p.K135N|CACNA1G_uc002irq.1_Missense_Mutation_p.K135N|CACNA1G_uc002irr.1_Missense_Mutation_p.K135N|CACNA1G_uc002irs.1_Missense_Mutation_p.K135N|CACNA1G_uc002irt.1_Missense_Mutation_p.K135N|CACNA1G_uc002irv.1_Missense_Mutation_p.K135N|CACNA1G_uc002irw.1_Missense_Mutation_p.K135N|CACNA1G_uc002iru.1_Missense_Mutation_p.K135N|CACNA1G_uc002irx.1_Missense_Mutation_p.K48N|CACNA1G_uc002iry.1_Missense_Mutation_p.K48N|CACNA1G_uc002irz.1_Missense_Mutation_p.K48N|CACNA1G_uc002isa.1_Missense_Mutation_p.K48N|CACNA1G_uc002isb.1_Missense_Mutation_p.K48N|CACNA1G_uc002isc.1_Missense_Mutation_p.K48N|CACNA1G_uc002isd.1_Missense_Mutation_p.K48N|CACNA1G_uc002ise.1_Missense_Mutation_p.K48N|CACNA1G_uc002isf.1_Missense_Mutation_p.K48N|CACNA1G_uc002isg.1_Missense_Mutation_p.K48N|CACNA1G_uc002ish.1_Missense_Mutation_p.K48N|CACNA1G_uc002isi.1_Missense_Mutation_p.K48N NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 135 Helical; Name=S2 of repeat I; (Potential).|I. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGTGGTGAAGATGGTGGCCT 0.527 NA 9 32 0 0 0 0 TUBD1 51174 broad.mit.edu 37 17 57963531 57963531 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:57963531G>A uc002ixw.1 - 3 511 c.233C>T c.(232-234)TCA>TTA p.S78L TUBD1_uc010ddf.1_Missense_Mutation_p.S78L|TUBD1_uc010ddg.1_Missense_Mutation_p.S43L|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.S78L|TUBD1_uc002ixx.1_Missense_Mutation_p.S78L|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 78 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GGCAGCCTTTGACAGCATTTG 0.413 NA 6 75 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58288742 58288742 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:58288742G>C uc002iyo.1 - 20 2599 c.2313C>G c.(2311-2313)CTC>CTG p.L771L USP32_uc002iyn.1_Silent_p.L441L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 771 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATTACCTGTTGAGTTCATAAA 0.408 NA 8 120 0 0 0 0 CYB561 1534 broad.mit.edu 37 17 61512584 61512584 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:61512584G>A uc002jap.2 - 4 828 c.426C>T c.(424-426)TTC>TTT p.F142F CYB561_uc002jaq.2_Silent_p.F188F|CYB561_uc002jar.2_Silent_p.F142F|CYB561_uc002jas.2_Silent_p.F142F|CYB561_uc010ddt.2_Missense_Mutation_p.S158F|CYB561_uc002jat.2_Silent_p.F142F|CYB561_uc010wpf.1_Intron|CYB561_uc010wpg.1_Silent_p.F113F NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 142 Helical; (Potential).|Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) GGAACAGGAAGAAGCTGAAGC 0.642 NA 11 43 0 0 0 0 KCNH6 81033 broad.mit.edu 37 17 61611639 61611639 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:61611639C>T uc002jay.2 + 5 1148 c.1068C>T c.(1066-1068)TTC>TTT p.F356F KCNH6_uc002jax.1_Silent_p.F356F|KCNH6_uc010wpl.1_Silent_p.F233F|KCNH6_uc010wpm.1_Silent_p.F356F|KCNH6_uc002jaz.1_Silent_p.F356F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 356 Helical; Name=Segment S3; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCATCCCTTTCGACCTCCTGA 0.622 NA 15 36 0 0 0 0 ABCA9 10350 broad.mit.edu 37 17 66972084 66972084 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:66972084C>T uc002jhu.2 - 39 4990 c.4847G>A c.(4846-4848)TGG>TAG p.W1616* ABCA9_uc010dez.2_Nonsense_Mutation_p.W1578* NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1616 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) GAGGAGTTTCCACTTCACCGA 0.408 NA 3 12 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78063659 78063659 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:78063659G>A uc010dht.2 + 17 2835 c.2808G>A c.(2806-2808)ATG>ATA p.M936I CCDC40_uc002jxm.3_Missense_Mutation_p.M719I|CCDC40_uc002jxn.3_Missense_Mutation_p.M332I NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 936 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCGGGCCATGAAGGGCGAGA 0.582 NA 6 29 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78317686 78317686 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:78317686C>G uc002jyh.1 + 3 655 c.432C>G c.(430-432)TTC>TTG p.F144L NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment p.F144L(1) ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGTTTCTTTTCAAGCTCCTCA 0.438 NA 18 89 0 0 0 0 C17orf90 339229 broad.mit.edu 37 17 79632428 79632428 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:79632428C>A uc002kba.2 - 2 258 c.247G>T c.(247-249)GAG>TAG p.E83* C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank NM_001039842 NP_001034931 Q5BKU9 CQ090_HUMAN hypothetical protein LOC339229 83 0 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGCTGGAGCTCAGGTGGCAGC 0.657 NA 8 23 1.77e-08 1.9e-08 1 0 PTPRM 5797 broad.mit.edu 37 18 8370921 8370921 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:8370921G>C uc002knn.3 + 22 3552 c.3049G>C c.(3049-3051)GAG>CAG p.E1017Q PTPRM_uc010dkv.2_Missense_Mutation_p.E1030Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E804Q NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1017 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AGATGACACAGAGATATATAA 0.348 NA 9 74 0 0 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256444 9256444 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:9256444C>G uc002knv.2 + 9 3436 c.3179C>G c.(3178-3180)TCA>TGA p.S1060* ANKRD12_uc002knw.2_Nonsense_Mutation_p.S1037*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.S1037*|ANKRD12_uc010dkx.1_Nonsense_Mutation_p.S767* NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1060 nucleus ovary(2)|central_nervous_system(1) 3 TCACCAGCATCAAAAGATACC 0.289 NA 24 106 0 0 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887362 9887362 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:9887362G>A uc002koi.3 + 2 1335 c.886G>A c.(886-888)GAG>AAG p.E296K TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E229K NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 296 13.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 CCAGCCCAAGGAGGGTGACCT 0.602 NA 32 73 0 0 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802101 34802101 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:34802101C>G uc002kzz.2 + 10 1667 c.1645C>G c.(1645-1647)CTA>GTA p.L549V KIAA1328_uc002lab.2_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.L408V|KIAA1328_uc010dnc.1_RNA NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 549 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) ACTCAGTCCTCTAAAATCAAC 0.473 NA 5 5 0 0 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555035 44555035 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:44555035C>G uc010xdb.1 - 1 1415 c.1179G>C c.(1177-1179)TGG>TGC p.W393C KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 393 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 AATGAATCCTCCATAATTCAT 0.577 NA 7 221 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560858 44560858 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:44560858C>G uc002lcr.1 - 1 1131 c.778G>C c.(778-780)GAG>CAG p.E260Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 260 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGGGTTTCCTCTCTTAAGCAG 0.597 NA 13 57 0 0 0 0 ATP8B1 5205 broad.mit.edu 37 18 55359051 55359051 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:55359051G>C uc002lgw.2 - 11 1208 c.1208C>G c.(1207-1209)TCT>TGT p.S403C uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 403 Helical; (Potential). S -> Y (in PFIC1). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GACATAGAGAGAGATGGGTAC 0.443 NA Byler_disease 8 37 0 0 0 0 PHLPP1 23239 broad.mit.edu 37 18 60642651 60642651 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:60642651G>A uc002lis.2 + 17 2419 c.2241G>A c.(2239-2241)CAG>CAA p.Q747Q NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1259 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 CTGCTGGGCAGAAGCTTGGTG 0.527 NA 7 84 0 0 0 0 DOK6 220164 broad.mit.edu 37 18 67365819 67365819 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:67365819G>C uc002lkl.2 + 5 779 c.589G>C c.(589-591)GAG>CAG p.E197Q NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 197 IRS-type PTB. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GTTCACGTTTGAGTCAGGAAG 0.478 NA 3 17 0 0 0 0 DOK6 220164 broad.mit.edu 37 18 67406304 67406304 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:67406304G>A uc002lkl.2 + 6 893 c.703G>A c.(703-705)GAA>AAA p.E235K NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 235 IRS-type PTB. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TGAGCAACATGAAAGATTAAT 0.448 NA 10 106 0 0 0 0 CNDP2 55748 broad.mit.edu 37 18 72183552 72183552 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:72183552G>A uc002llm.1 + 9 1155 c.993G>A c.(991-993)GTG>GTA p.V331V CNDP2_uc002lln.1_Silent_p.V247V|CNDP2_uc010dqs.2_Intron NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 331 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCAAGACCGTGATTCCCAGGA 0.597 NA 14 48 0 0 0 0 SBNO2 22904 broad.mit.edu 37 19 1109708 1109708 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:1109708G>A uc002lrk.3 - 27 3335 c.3097C>T c.(3097-3099)CAG>TAG p.Q1033* SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Nonsense_Mutation_p.Q976*|SBNO2_uc010dse.2_Nonsense_Mutation_p.Q1016*|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 1033 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCCGTCCTGCGGGTGCCCG 0.672 NA 10 34 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2110821 2110821 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:2110821G>A uc002luz.2 - 25 3097 c.2874C>T c.(2872-2874)AGC>AGT p.S958S AP3D1_uc010dsv.2_Silent_p.S48S|AP3D1_uc002luy.2_Silent_p.S917S|AP3D1_uc002lva.2_Silent_p.S1020S NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 958 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGGATGCTGCTGCTCCTGT 0.642 NA 8 36 0 0 0 0 TLE2 7089 broad.mit.edu 37 19 3028341 3028341 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3028341C>A uc002lww.2 - 3 425 c.162G>T c.(160-162)ACG>ACT p.T54T TLE2_uc010xhb.1_5'Flank|TLE2_uc010dth.2_Silent_p.T54T|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Silent_p.T67T|TLE2_uc010xhd.1_Silent_p.T54T NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 54 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCATTTCCGTCTTCTCGC 0.507 NA 4 10 0.000602214 0.000625187 1 0 DOHH 83475 broad.mit.edu 37 19 3494056 3494056 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3494056C>T uc002lxs.2 - 3 484 c.321G>A c.(319-321)CTG>CTA p.L107L DOHH_uc010xhl.1_Silent_p.L107L NM_031304 NP_112594 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 107 HEAT-like PBS-type 2. peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AATACTGCTTCAGGATCTCCA 0.642 NA 4 15 0 0 0 0 DOHH 83475 broad.mit.edu 37 19 3494073 3494073 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3494073C>T uc002lxs.2 - 3 467 c.304G>A c.(304-306)GAA>AAA p.E102K DOHH_uc010xhl.1_Missense_Mutation_p.E102K NM_031304 NP_112594 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 102 HEAT-like PBS-type 2. peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGAACTTCCGGGTCCCCG 0.632 NA 5 14 0 0 0 0 SAFB2 9667 broad.mit.edu 37 19 5622555 5622555 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:5622555C>G uc002mcd.2 - 1 384 c.172G>C c.(172-174)GAG>CAG p.E58Q SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Missense_Mutation_p.E58Q|SAFB2_uc010xip.1_RNA NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 58 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TTGAGCCGCTCCATCAGGACG 0.731 NA 8 12 0 0 0 0 RFX2 5990 broad.mit.edu 37 19 6007164 6007164 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6007164C>T uc002meb.2 - 12 1530 c.1261G>A c.(1261-1263)GAG>AAG p.E421K RFX2_uc002mec.2_Missense_Mutation_p.E396K|RFX2_uc002med.1_3'UTR NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 ACGGCGCCCTCGGGGTCTTCG 0.667 NA 7 27 0 0 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665352 6665352 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6665352G>C uc002mfk.1 - 5 690 c.308C>G c.(307-309)TCC>TGC p.S103C TNFSF14_uc002mfj.1_Missense_Mutation_p.S67C NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 103 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 GGTCAAGCTGGAGTTGGCCCC 0.532 NA 3 3 0 0 0 0 VAV1 7409 broad.mit.edu 37 19 6833552 6833552 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6833552C>G uc002mfu.1 + 17 1721 c.1624C>G c.(1624-1626)CAG>GAG p.Q542E VAV1_uc010xjh.1_Missense_Mutation_p.Q510E|VAV1_uc010dva.1_Missense_Mutation_p.Q542E|VAV1_uc002mfv.1_Missense_Mutation_p.Q487E NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 542 Phorbol-ester/DAG-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TACCTTCTATCAGGGCTACCG 0.547 NA 20 95 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8587564 8587564 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:8587564C>T uc002mkg.2 - 26 3118 c.3004G>A c.(3004-3006)GAG>AAG p.E1002K NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 1002 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GTGTTGTGCTCTGAGGGCGGA 0.687 NA 7 24 0 0 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8650504 8650504 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:8650504C>T uc002mkj.1 - 23 2975 c.2701G>A c.(2701-2703)GAT>AAT p.D901N ADAMTS10_uc002mki.1_Missense_Mutation_p.D388N|ADAMTS10_uc002mkk.1_Missense_Mutation_p.D533N NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 901 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 ACGCCTGCATCGCAGCTGCGG 0.672 NA 7 13 0 0 0 0 ZNF177 7730 broad.mit.edu 37 19 9492159 9492159 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:9492159G>C uc002mli.2 + 12 1335 c.672G>C c.(670-672)AAG>AAC p.K224N ZNF177_uc002mlj.2_Missense_Mutation_p.K174N|ZNF177_uc002mlk.2_Missense_Mutation_p.K224N NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 224 C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATCCCTTAAGAAACACACAC 0.463 NA 16 131 0 0 0 0 EIF3G 8666 broad.mit.edu 37 19 10226442 10226442 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:10226442G>T uc002mnd.2 - 9 822 c.758C>A c.(757-759)ACC>AAC p.T253N NM_003755 NP_003746 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, 253 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) CTGCAGGTCGGTCTCACGCGT 0.632 NA 17 57 2.94e-08 3.16e-08 1 0 DNM2 1785 broad.mit.edu 37 19 10870479 10870479 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:10870479C>T uc002mps.1 + 2 391 c.227C>T c.(226-228)TCA>TTA p.S76L DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.S76L|DNM2_uc002mpv.1_Missense_Mutation_p.S76L|DNM2_uc002mpu.1_Missense_Mutation_p.S76L|DNM2_uc010dxl.1_Missense_Mutation_p.S76L NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 76 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCATCTTCTCAAAAACAGGT 0.577 NA 33 97 0 0 0 0 YIPF2 78992 broad.mit.edu 37 19 11036435 11036435 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:11036435G>A uc002mqb.2 - 5 418 c.294C>T c.(292-294)ATC>ATT p.I98I YIPF2_uc002mqc.2_Silent_p.I98I|C19orf52_uc002mqd.1_5'Flank NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 98 Cytoplasmic (Potential). integral to membrane|transport vesicle 0 GTGAGCCTTTGATCCGGTCCA 0.602 NA 8 18 0 0 0 0 ZNF136 7695 broad.mit.edu 37 19 12297854 12297854 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12297854G>C uc002mti.2 + 4 761 c.661G>C c.(661-663)GAG>CAG p.E221Q ZNF136_uc010xmh.1_Missense_Mutation_p.E155Q NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 221 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 TCACACTGGAGAGAAACCCTA 0.398 NA 17 33 0 0 0 0 ZNF44 51710 broad.mit.edu 37 19 12383859 12383859 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12383859G>A uc010xmj.1 - 5 1560 c.1355C>T c.(1354-1356)TCT>TTT p.S452F ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S404F NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 452 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TACACTAGGAGAATCAAAGGC 0.453 NA 10 42 0 0 0 0 HOOK2 29911 broad.mit.edu 37 19 12883482 12883482 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12883482C>G uc002muy.2 - 6 572 c.401G>C c.(400-402)AGA>ACA p.R134T HOOK2_uc002muz.2_Missense_Mutation_p.R134T NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 134 Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 CGTCATGATTCTCTGGATGTG 0.582 NA 13 125 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13356019 13356019 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:13356019C>T uc010dze.2 - 31 5166 c.4930G>A c.(4930-4932)GAT>AAT p.D1644N CACNA1A_uc010xnd.1_Missense_Mutation_p.D349N|CACNA1A_uc002mwx.3_Missense_Mutation_p.D349N|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1169N|CACNA1A_uc002mwy.3_Missense_Mutation_p.D1643N|CACNA1A_uc010xne.1_Missense_Mutation_p.D1172N|CACNA1A_uc002mwv.3_Missense_Mutation_p.D160N NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1644 Helical; Name=S3 of repeat IV; (Potential).|IV. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ACGAGGATATCGGTGATGCTG 0.582 NA 18 38 0 0 0 0 MYO9B 4650 broad.mit.edu 37 19 17311114 17311114 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:17311114G>C uc010eak.2 + 25 4403 c.4251G>C c.(4249-4251)AAG>AAC p.K1417N MYO9B_uc002nfi.2_Missense_Mutation_p.K1417N|MYO9B_uc002nfj.1_Missense_Mutation_p.K1417N|MYO9B_uc002nfl.1_5'UTR NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1417 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CCACGTTTAAGAGGCTTTTTC 0.502 NA 4 22 0 0 0 0 MAP1S 55201 broad.mit.edu 37 19 17835961 17835961 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:17835961C>T uc002nhe.1 + 4 416 c.407C>T c.(406-408)TCG>TTG p.S136L MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.S136L|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.S110L NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 136 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GGGGGCTTCTCGCCTCACCAC 0.612 NA 21 63 0 0 0 0 ZNF43 7594 broad.mit.edu 37 19 21992317 21992317 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:21992317G>A uc002nqj.2 - 4 652 c.522C>T c.(520-522)TTC>TTT p.F174F ZNF43_uc010ecv.2_Silent_p.F168F|ZNF43_uc002nql.2_Silent_p.F168F|ZNF43_uc002nqm.2_Silent_p.F168F|ZNF43_uc002nqk.2_Silent_p.F104F NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 174 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTTTGCATTTGAAAAGTTTTT 0.303 NA 11 13 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22155770 22155770 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:22155770C>G uc002nqp.2 - 5 1915 c.1766G>C c.(1765-1767)GGA>GCA p.G589A ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTTCTCTCCAGTATGAAT 0.383 NA 12 42 0 0 0 0 ZNF345 25850 broad.mit.edu 37 19 37368436 37368436 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:37368436G>C uc002oex.2 + 3 1082 c.704G>C c.(703-705)TGT>TCT p.C235S ZNF345_uc002oey.3_Missense_Mutation_p.C235S|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 235 C2H2-type 7. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCAAAGCATGTGGAATGGCC 0.418 NA 19 57 0 0 0 0 DLL3 10683 broad.mit.edu 37 19 39989650 39989650 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:39989650G>A uc002olx.2 + 1 94 c.36G>A c.(34-36)CAG>CAA p.Q12Q DLL3_uc010egq.2_Silent_p.Q12Q|DLL3_uc002olw.2_Silent_p.Q12Q NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 12 Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCTCTCCCAGACTGTGATCC 0.617 NA 22 79 0 0 0 0 ERF 2077 broad.mit.edu 37 19 42753748 42753748 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:42753748G>A uc002ote.3 - 4 674 c.516C>T c.(514-516)CTC>CTT p.L172L ERF_uc002otd.3_5'UTR NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 172 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CAGCCGAGAAGAGGGAAGATG 0.657 NA 13 58 0 0 0 0 MEGF8 1954 broad.mit.edu 37 19 42875617 42875617 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:42875617G>C uc002otl.3 + 40 7686 c.7051G>C c.(7051-7053)GAC>CAC p.D2351H MEGF8_uc002otm.3_Missense_Mutation_p.D1959H|MEGF8_uc002otn.3_Intron NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2418 Extracellular (Potential).|Laminin EGF-like 4. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TGACCGTCGAGACTGCTACAA 0.627 NA 9 44 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49477904 49477904 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:49477904G>A uc002plp.2 - 11 1636 c.1395C>T c.(1393-1395)CTC>CTT p.L465L GYS1_uc010xzy.1_Silent_p.L98L|GYS1_uc010emm.2_Silent_p.L401L|GYS1_uc010xzz.1_Silent_p.L385L|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 465 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGCTATTGAAGAGGCCGATTC 0.617 NA 8 32 0 0 0 0 ZNF175 7728 broad.mit.edu 37 19 52091027 52091027 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:52091027G>A uc002pxb.2 + 5 1821 c.1443G>A c.(1441-1443)GGG>GGA p.G481G NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 481 C2H2-type 8. response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) ACAACTGTGGGAAATCCTTCA 0.448 NA 11 19 0 0 0 0 LILRB4 11006 broad.mit.edu 37 19 55179456 55179456 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:55179456C>G uc002qgp.2 + 12 1695 c.1333C>G c.(1333-1335)CTG>GTG p.L445V LILRB4_uc002qgq.2_Missense_Mutation_p.L444V|LILRB4_uc002qgr.2_Missense_Mutation_p.L487V|LILRB4_uc010ert.2_Missense_Mutation_p.L486V|LILRB4_uc010eru.2_Missense_Mutation_p.L475V NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 445 ITIM motif 3.|Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CTATGCCACTCTGGCCATCCA 0.597 NA 15 59 0 0 0 0 ZNF418 147686 broad.mit.edu 37 19 58439254 58439254 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:58439254C>T uc002qqs.1 - 4 587 c.295G>A c.(295-297)GAT>AAT p.D99N ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.D14N NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 99 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCCTGATGATCTGCCAAGTGC 0.512 NA 21 92 0 0 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871880 8871880 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:8871880G>C uc002qzc.2 - 30 4468 c.4286C>G c.(4285-4287)TCA>TGA p.S1429* KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.S1330*|KIDINS220_uc002qzb.2_Nonsense_Mutation_p.S283* NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1429 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCTAGGTTTGAATGAATAGA 0.463 NA 29 99 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15415720 15415720 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:15415720G>A uc002rcc.1 - 44 5638 c.5612C>T c.(5611-5613)CCG>CTG p.P1871L NBAS_uc010exl.1_Missense_Mutation_p.P943L|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1871 ovary(2)|liver(1)|skin(1) 4 AAGCCACTCCGGTGAAGAGCC 0.478 NA 14 50 0 0 0 0 KCNS3 3790 broad.mit.edu 37 2 18113476 18113476 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:18113476C>G uc002rcv.2 + 3 1652 c.1201C>G c.(1201-1203)CCC>GCC p.P401A KCNS3_uc002rcw.2_Missense_Mutation_p.P401A NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 401 Helical; Name=Segment S6; (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTGGCCCTTCCCATCACCAT 0.517 NA 20 48 0 0 0 0 ASXL2 55252 broad.mit.edu 37 2 25965130 25965130 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:25965130G>A uc002rgs.2 - 12 4297 c.4076C>T c.(4075-4077)TCA>TTA p.S1359L ASXL2_uc002rgt.1_Missense_Mutation_p.S842L NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGAAAATGACATGACATC 0.493 NA 9 21 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32605289 32605289 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:32605289C>T uc010ezu.2 + 3 710 c.576C>T c.(574-576)TTC>TTT p.F192F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 192 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATGATTTGTTCATCACACAGC 0.333 NA 3 10 0 0 0 0 VIT 5212 broad.mit.edu 37 2 37028511 37028511 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:37028511G>C uc002rpl.2 + 13 1347 c.1126G>C c.(1126-1128)GAG>CAG p.E376Q VIT_uc002rpm.2_Missense_Mutation_p.E354Q|VIT_uc010ezv.2_Missense_Mutation_p.E332Q|VIT_uc010ezw.2_Missense_Mutation_p.E333Q NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 361 VWFA 1. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GACAGCCATAGAGAAAATTAC 0.393 NA 39 106 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561259 55561259 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:55561259C>T uc002ryv.2 - 15 3540 c.2698G>A c.(2698-2700)GAT>AAT p.D900N CCDC88A_uc010yoz.1_Missense_Mutation_p.D900N|CCDC88A_uc010ypa.1_Missense_Mutation_p.D900N|CCDC88A_uc010ypb.1_Missense_Mutation_p.D802N|CCDC88A_uc002ryu.2_Missense_Mutation_p.D183N|CCDC88A_uc002ryw.2_Missense_Mutation_p.D183N NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 900 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GTTTTTATATCAATAGTTGCT 0.279 NA 10 27 0 0 0 0 KIAA1841 84542 broad.mit.edu 37 2 61300626 61300626 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:61300626C>G uc002saw.3 + 5 674 c.371C>G c.(370-372)TCT>TGT p.S124C KIAA1841_uc002sax.3_Intron|KIAA1841_uc002say.2_Missense_Mutation_p.S124C|KIAA1841_uc002sav.3_Missense_Mutation_p.S124C NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 124 0 Epithelial(17;0.193) AGGAATTGTTCTTCAGAAAGT 0.353 NA 10 35 0 0 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69045102 69045102 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:69045102G>A uc002seu.2 + 8 1340 c.976G>A c.(976-978)GAA>AAA p.E326K ARHGAP25_uc010fdg.2_Missense_Mutation_p.E327K|ARHGAP25_uc010yql.1_Missense_Mutation_p.E287K|ARHGAP25_uc002sev.2_Missense_Mutation_p.E320K|ARHGAP25_uc002sew.2_Missense_Mutation_p.E319K|ARHGAP25_uc002sex.2_Missense_Mutation_p.E320K|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Missense_Mutation_p.E53K NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 326 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GTCGAAGGTCGAAGACCCTGC 0.418 NA 15 36 0 0 0 0 HTRA2 27429 broad.mit.edu 37 2 74757145 74757145 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:74757145G>A uc002smi.1 + 1 614 c.12G>A c.(10-12)CCG>CCA p.P4P AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 4 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TGGCTGCGCCGAGGGCGGGGC 0.741 NA 8 33 0 0 0 0 HTRA2 27429 broad.mit.edu 37 2 74757169 74757169 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:74757169G>C uc002smi.1 + 1 638 c.36G>C c.(34-36)TGG>TGC p.W12C AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.W12C|HTRA2_uc002smk.1_Missense_Mutation_p.W12C|HTRA2_uc002sml.1_Missense_Mutation_p.W12C|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 12 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GTGCAGGCTGGAGCCTTCGGG 0.716 NA 10 39 0 0 0 0 HK2 3099 broad.mit.edu 37 2 75100416 75100416 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:75100416C>G uc002snd.2 + 5 2435 c.509C>G c.(508-510)TCA>TGA p.S170* NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 170 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 TTCCTGGTCTCATGGACCAAG 0.522 NA 17 94 0 0 0 0 TMEM131 23505 broad.mit.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:98409038C>G uc002syh.3 - 31 4184 c.3955G>C c.(3955-3957)GAA>CAA p.E1319Q NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1319 Pro-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 GACAGCCTTTCAGGCTGCGGC 0.677 NA 6 9 0 0 0 0 CHST10 9486 broad.mit.edu 37 2 101010229 101010229 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:101010229G>C uc002tam.2 - 7 908 c.549C>G c.(547-549)TTC>TTG p.F183L NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 183 Lumenal (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 TAAAAAACTTGAAGTATGTTT 0.423 NA 13 37 0 0 0 0 SMPD4 55627 broad.mit.edu 37 2 130911298 130911298 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:130911298C>T uc002tqq.1 - 17 2507 c.1987G>A c.(1987-1989)GAG>AAG p.E663K SMPD4_uc002tqo.1_Missense_Mutation_p.E195K|SMPD4_uc002tqp.1_Missense_Mutation_p.E402K|SMPD4_uc010yzy.1_Missense_Mutation_p.E412K|SMPD4_uc010yzz.1_Missense_Mutation_p.E327K|SMPD4_uc002tqr.1_Missense_Mutation_p.E634K|SMPD4_uc002tqs.1_Missense_Mutation_p.E531K|SMPD4_uc002tqt.1_Missense_Mutation_p.E512K|SMPD4_uc010zaa.1_Missense_Mutation_p.E521K|SMPD4_uc010zab.1_Missense_Mutation_p.E561K|SMPD4_uc010zac.1_Missense_Mutation_p.E404K|SMPD4_uc010zad.1_Missense_Mutation_p.E299K NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 624 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) CGCAGGTACTCCAGGGCCTTC 0.597 NA 6 45 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141259290 141259290 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:141259290G>A uc002tvj.1 - 55 9788 c.8816C>T c.(8815-8817)TCT>TTT p.S2939F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2939 Extracellular (Potential).|EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGTCTTGAGAACATCCACT 0.388 NA TSP Lung(27;0.18) 12 79 0 0 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533010 166533010 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:166533010G>T uc002udf.2 + 6 973 c.597G>T c.(595-597)AAG>AAT p.K199N CSRNP3_uc002udg.2_Missense_Mutation_p.K199N NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 199 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TGGAAGAAAAGCACGAACTCC 0.522 NA 30 78 1.25e-16 1.36e-16 1 0 HOXD10 3236 broad.mit.edu 37 2 176982029 176982029 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:176982029G>C uc002ukj.2 + 1 538 c.468G>C c.(466-468)CAG>CAC p.Q156H NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 156 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GACTGAGTCAGACCTACGCCA 0.582 NA 16 107 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191859795 191859795 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:191859795G>C uc002usj.2 - 10 1324 c.936C>G c.(934-936)CTC>CTG p.L312L STAT1_uc010fse.1_Silent_p.L312L|STAT1_uc002usk.2_Silent_p.L312L|STAT1_uc002usl.2_Silent_p.L314L|STAT1_uc010fsf.1_Silent_p.L124L NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 312 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ACCTCTGAATGAGCTGCTGGA 0.388 NA 7 44 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191859849 191859849 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:191859849G>C uc002usj.2 - 10 1270 c.882C>G c.(880-882)ATC>ATG p.I294M STAT1_uc010fse.1_Missense_Mutation_p.I294M|STAT1_uc002usk.2_Missense_Mutation_p.I294M|STAT1_uc002usl.2_Missense_Mutation_p.I296M|STAT1_uc010fsf.1_Missense_Mutation_p.I106M NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 294 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGTTTTTTGTGATAGGGTCAT 0.438 NA 7 49 0 0 0 0 NBEAL1 65065 broad.mit.edu 37 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:204000956C>G uc002uzt.3 + 27 4616 c.4283C>G c.(4282-4284)TCT>TGT p.S1428C NBEAL1_uc002uzs.3_Missense_Mutation_p.S138C NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1428 binding ovary(1)|skin(1) 2 GATGACTTCTCTTTACTTGAA 0.363 NA 11 40 0 0 0 0 GLB1L 79411 broad.mit.edu 37 2 220102389 220102389 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:220102389G>C uc002vkm.2 - 16 1773 c.1534C>G c.(1534-1536)CTG>GTG p.L512V GLB1L_uc002vkk.2_Missense_Mutation_p.L269V|GLB1L_uc010zkx.1_Missense_Mutation_p.L422V|GLB1L_uc002vkn.2_Missense_Mutation_p.L512V NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 512 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAATTTTCAGAGGGAACATC 0.453 NA 19 46 0 0 0 0 STK16 8576 broad.mit.edu 37 2 220111834 220111834 + Splice_Site SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:220111834G>C uc002vko.2 + 4 464 c.307_splice c.e4-1 p.R103_splice GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Splice_Site_p.R103_splice|STK16_uc010fwf.2_Splice_Site_p.R103_splice|STK16_uc002vkp.2_Splice_Site_p.R103_splice|STK16_uc002vkr.2_Splice_Site_p.R36_splice|STK16_uc002vkq.2_Splice_Site_p.R148_splice NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGTTGCAGAGAGGTACGC 0.502 NA 9 21 0 0 0 0 IRS1 3667 broad.mit.edu 37 2 227660640 227660640 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:227660640C>T uc002voh.3 - 1 2867 c.2815G>A c.(2815-2817)GAG>AAG p.E939K NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 939 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ATGTACTCCTCAGTGCCAGTC 0.652 NA 19 82 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233710554 233710554 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:233710554G>A uc002vti.3 + 28 3755 c.3418G>A c.(3418-3420)GAA>AAA p.E1140K GIGYF2_uc002vtj.3_Missense_Mutation_p.E1161K|GIGYF2_uc002vtk.3_Missense_Mutation_p.E1140K|GIGYF2_uc002vth.3_Missense_Mutation_p.E1134K|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Missense_Mutation_p.E473K NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 1140 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCAGTGGTGTGAACAGATGCT 0.274 NA 11 40 0 0 0 0 INPP5D 3635 broad.mit.edu 37 2 234104054 234104054 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:234104054A>G uc010zmo.1 + 23 2759 c.2606A>G c.(2605-2607)AAG>AGG p.K869R INPP5D_uc010zmp.1_Missense_Mutation_p.K868R NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 869 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GACTTTGTGAAGACGGAGCGT 0.473 NA 15 50 0 0 0 0 TRPM8 79054 broad.mit.edu 37 2 234888876 234888876 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:234888876G>T uc002vvh.2 + 18 2440 c.2400G>T c.(2398-2400)GTG>GTT p.V800V TRPM8_uc010fyj.2_Silent_p.V378V|TRPM8_uc010fyk.2_5'Flank NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 800 Helical; Name=4; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGTGGAATGTGATGGACACGC 0.408 NA 6 25 0.00198382 0.00204096 1 0 HDLBP 3069 broad.mit.edu 37 2 242194963 242194963 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:242194963C>G uc002waz.2 - 8 1134 c.906G>C c.(904-906)GTG>GTC p.V302V HDLBP_uc002wba.2_Silent_p.V302V|HDLBP_uc002wbb.2_Intron|HDLBP_uc010fzn.1_Intron NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 302 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGGATTTCTTCACTTCCACTG 0.493 NA 20 74 0 0 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559329 1559329 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:1559329C>G uc010gai.2 - 2 187 c.88G>C c.(88-90)GAG>CAG p.E30Q SIRPB1_uc002wfk.3_Missense_Mutation_p.E30Q NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 30 Extracellular (Potential).|Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 AGCTCGTCCTCACCTGCCACT 0.507 NA 7 93 0 0 0 0 XKR7 343702 broad.mit.edu 37 20 30584822 30584822 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:30584822C>G uc002wxe.2 + 3 1476 c.1302C>G c.(1300-1302)GTC>GTG p.V434V NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 434 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCATGTGTGTCTACTACTGTC 0.587 NA 15 46 0 0 0 0 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:31022345C>T uc002wxs.2 + 12 2256 c.1830C>T c.(1828-1830)GGC>GGT p.G610G ASXL1_uc010geb.2_Silent_p.G501G NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTTGGACTGGCGCCAGGACCC 0.632 NA F|N|Mis MDS|CMML 8 31 0 0 0 0 RPN2 6185 broad.mit.edu 37 20 35827507 35827508 + Missense_Mutation DNP TC TC AA TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:35827507_35827508TC>AA uc002xgp.2 + 4 662_663 c.358_359TC>AA c.(358-360)TCA>AAA p.S120K RPN2_uc002xgo.3_Missense_Mutation_p.S120K|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Missense_Mutation_p.S88K NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 120 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAGTGAGGACTCATCTGTTACC 0.48 NA 22 69 0 0 0 0 HNF4A 3172 broad.mit.edu 37 20 43047076 43047076 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:43047076C>T uc002xma.2 + 6 749 c.660C>T c.(658-660)CTC>CTT p.L220L HNF4A_uc002xlt.2_Silent_p.L198L|HNF4A_uc002xlu.2_Silent_p.L198L|HNF4A_uc002xlv.2_Silent_p.L198L|HNF4A_uc002xly.2_Silent_p.L220L|HNF4A_uc002xlz.2_Silent_p.L220L|HNF4A_uc010ggq.2_Silent_p.L213L NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 220 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGGCCCTGCTCAGAGCCCATG 0.483 NA 25 84 0 0 0 0 KCNK15 60598 broad.mit.edu 37 20 43379022 43379022 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:43379022C>G uc002xmr.2 + 2 600 c.536C>G c.(535-537)TCG>TGG p.S179W NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 179 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) GTCGCCTTCTCGCACTTCGAG 0.677 NA 4 19 0 0 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47582443 47582443 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:47582443G>C uc002xtx.3 + 8 1094 c.942G>C c.(940-942)GAG>GAC p.E314D NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 314 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAGAACCTGAGAGAGTTCTAG 0.473 NA 14 67 0 0 0 0 ADNP 23394 broad.mit.edu 37 20 49510683 49510683 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:49510683G>C uc002xvt.1 - 5 913 c.568C>G c.(568-570)CAG>GAG p.Q190E ADNP_uc002xvu.1_Missense_Mutation_p.Q190E NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GCCACATGCTGAAAATGTTCC 0.448 NA 24 82 0 0 0 0 NFATC2 4773 broad.mit.edu 37 20 50049030 50049030 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:50049030G>A uc002xwd.2 - 9 2516 c.2296C>T c.(2296-2298)CAG>TAG p.Q766* NFATC2_uc002xwc.2_Nonsense_Mutation_p.Q766*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.Q746*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.Q547*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.Q746* NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 766 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GCCGGCTGCTGATAGCCCAGC 0.697 NA 5 18 0 0 0 0 LIPI 149998 broad.mit.edu 37 21 15561416 15561416 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:15561416C>G uc002yjm.2 - 2 444 c.434G>C c.(433-435)AGA>ACA p.R145T LIPI_uc010gkw.1_Missense_Mutation_p.R78T NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 124 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTAACTGCTCTATTATAAAT 0.338 NA 5 43 0 0 0 0 SUMO3 6612 broad.mit.edu 37 21 46226908 46226908 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:46226908C>T uc002zfz.1 - 4 431 c.270G>A c.(268-270)ACG>ACA p.T90T SUMO3_uc011afi.1_Silent_p.T128T|SUMO3_uc002zga.1_Missense_Mutation_p.R107Q NM_006936 NP_008867 P55854 SUMO3_HUMAN small ubiquitin-like modifier protein 3 90 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding 0 Colorectal(79;0.058) GCACACCTCCCGTCTGCTGCT 0.612 NA 10 35 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47546045 47546045 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:47546045C>G uc002zia.1 + 26 2398 c.2316C>G c.(2314-2316)CTC>CTG p.L772L COL6A2_uc002zhy.1_Silent_p.L772L|COL6A2_uc002zhz.1_Silent_p.L772L|COL6A2_uc002zib.1_Silent_p.L178L|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 772 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GTGAAAACCTCTACTCCATCG 0.587 NA 48 143 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21104247 21104247 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:21104247C>T uc002zsz.3 - 28 3246 c.3015G>A c.(3013-3015)ATG>ATA p.M1005I NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1005 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCTGGAGGATCATCCCACAGC 0.527 NA 8 30 0 0 0 0 RAB36 9609 broad.mit.edu 37 22 23495243 23495243 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:23495243G>A uc002zwv.1 + 5 489 c.449G>A c.(448-450)CGA>CAA p.R150Q RAB36_uc010gtw.1_Missense_Mutation_p.R128Q NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 150 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GTTTTTGATCGAGACTACAAG 0.493 NA 23 97 0 0 0 0 CYTSA 23384 broad.mit.edu 37 22 24759250 24759250 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:24759250C>T uc002zzw.2 + 12 3072 c.2765C>T c.(2764-2766)TCA>TTA p.S922L CYTSA_uc002zzv.3_Missense_Mutation_p.S922L|CYTSA_uc011ajq.1_Missense_Mutation_p.S922L NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 922 cell cycle|cell division 0 AGAACATCTTCAGCCAGCCGG 0.403 NA 13 28 0 0 0 0 OSM 5008 broad.mit.edu 37 22 30660370 30660370 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:30660370C>T uc003ahb.2 - 3 313 c.261G>A c.(259-261)CTG>CTA p.L87L NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 87 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) CCAGCCCCCTCAGGGTCTCCT 0.657 NA 8 18 0 0 0 0 APOL1 8542 broad.mit.edu 37 22 36661869 36661869 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:36661869G>C uc003apf.2 + 6 1155 c.987G>C c.(985-987)ATG>ATC p.M329I APOL1_uc011amn.1_Missense_Mutation_p.M206I|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.M345I|APOL1_uc011amo.1_Missense_Mutation_p.M206I|APOL1_uc011amp.1_Missense_Mutation_p.M329I|APOL1_uc011amq.1_Missense_Mutation_p.M311I|APOL1_uc010gwx.2_Missense_Mutation_p.M206I NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 329 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 TCCTGGAAATGAGCAGAGGAG 0.542 NA 6 47 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:41565529G>A uc003azl.3 + 26 4590 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1399 D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399Y(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATCTTACCTCGATAGTGTTCA 0.338 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 13 55 0 0 0 0 PIM3 415116 broad.mit.edu 37 22 50356510 50356510 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50356510C>T uc003bjb.2 + 5 1243 c.790C>T c.(790-792)CCA>TCA p.P264S PIM3_uc011arj.1_Missense_Mutation_p.P27S NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN serine/threonine protein kinase pim-3 264 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GAGGGTCTCTCCAGGTGCGTG 0.682 NA 8 25 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656779 50656779 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50656779G>C uc003bkb.1 - 23 5519 c.5007C>G c.(5005-5007)TTC>TTG p.F1669L TUBGCP6_uc003bka.1_Missense_Mutation_p.Q746E|TUBGCP6_uc010har.1_Missense_Mutation_p.F1661L|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1669 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCTCGTGCTTGAACAGCTGCA 0.632 NA 12 36 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50724643 50724643 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50724643G>C uc003bkv.3 - 9 1942 c.1836C>G c.(1834-1836)TTC>TTG p.F612L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 612 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCAGTCGTAGAAGGGGTACT 0.627 NA 28 79 0 0 0 0 LRRN1 57633 broad.mit.edu 37 3 3887186 3887186 + Silent SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:3887186T>C uc003bpt.3 + 2 1622 c.861T>C c.(859-861)CTT>CTC p.L287L SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 287 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AAAATATGCTTCGGTTAAAAG 0.438 NA 16 69 0 0 0 0 RAD18 56852 broad.mit.edu 37 3 8940660 8940660 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:8940660C>A uc003brd.2 - 11 1317 c.1240G>T c.(1240-1242)GAA>TAA p.E414* RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 414 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CTGTCAGGTTCCAATTCCTCT 0.368 NA Rad6_pathway 9 31 1.77e-08 1.9e-08 1 0 IRAK2 3656 broad.mit.edu 37 3 10264469 10264469 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:10264469G>A uc003bve.1 + 9 1239 c.1163G>A c.(1162-1164)CGG>CAG p.R388Q NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 388 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 GATTTCATCCGGGTGGGGCAG 0.527 NA 22 72 0 0 0 0 C3orf19 51244 broad.mit.edu 37 3 14706577 14706577 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:14706577G>A uc003byw.2 + 6 619 c.528G>A c.(526-528)ATG>ATA p.M176I C3orf19_uc010hei.1_Missense_Mutation_p.M176I|C3orf19_uc010hej.2_Missense_Mutation_p.M81I NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 176 0 GGCGCTGTATGAGAAAGGATT 0.473 NA 11 125 0 0 0 0 NR1D2 9975 broad.mit.edu 37 3 24003755 24003755 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:24003755C>G uc003ccs.2 + 5 1124 c.805C>G c.(805-807)CAA>GAA p.Q269E NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q194E NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 269 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 TATGTATAATCAAGAGCAGCA 0.423 NA 12 39 0 0 0 0 NR1D2 9975 broad.mit.edu 37 3 24003916 24003916 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:24003916C>T uc003ccs.2 + 5 1285 c.966C>T c.(964-966)TTC>TTT p.F322F NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Silent_p.F247F NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 322 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 ATGGACAGTTCAAAGGGAGGA 0.398 NA 9 28 0 0 0 0 MYRIP 25924 broad.mit.edu 37 3 40223839 40223839 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:40223839G>A uc003cka.2 + 9 1137 c.1002G>A c.(1000-1002)AAG>AAA p.K334K MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.K334K|MYRIP_uc010hhw.2_Silent_p.K245K|MYRIP_uc011ayz.1_Silent_p.K147K|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 334 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CCAGCTGGAAGAGTGTGGACA 0.522 NA 9 29 0 0 0 0 PTPN23 25930 broad.mit.edu 37 3 47448093 47448093 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:47448093C>G uc003crf.1 + 8 846 c.750C>G c.(748-750)GCC>GCG p.A250A PTPN23_uc011baw.1_Silent_p.A215A|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.A120A NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 250 TPR 1.|BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACTTCGCAGCCGTGGCTCATG 0.627 NA 9 23 0 0 0 0 SCAP 22937 broad.mit.edu 37 3 47484421 47484421 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:47484421G>A uc003crh.1 - 2 318 c.63C>T c.(61-63)CTC>CTT p.L21L SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 21 Helical; Name=1; (Potential). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AGGATGCACAGAGGAGCCCAT 0.537 NA 6 29 0 0 0 0 NAT6 24142 broad.mit.edu 37 3 50334679 50334679 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:50334679C>A uc003czi.2 - 2 319 c.216G>T c.(214-216)CTG>CTT p.L72L HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Silent_p.L94L|NAT6_uc003czk.3_Silent_p.L72L|NAT6_uc003czl.1_Silent_p.L72L NM_012191 NP_036323 Q93015 NAT6_HUMAN N-acetyltransferase 6 72 N-acetyltransferase. cytoplasm N-acetyltransferase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CACAAGCATCCAGGAGCTCGG 0.642 NA 9 40 0.000442599 0.000460739 1 0 CACNA1D 776 broad.mit.edu 37 3 53834389 53834389 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:53834389C>T uc003dgv.3 + 41 5200 c.5037C>T c.(5035-5037)TTC>TTT p.F1679F CACNA1D_uc003dgu.3_Silent_p.F1699F|CACNA1D_uc003dgy.3_Silent_p.F1664F|CACNA1D_uc003dgw.3_Silent_p.F1346F|CACNA1D_uc003dgx.1_Silent_p.F855F|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1679 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATGATGTGTTCAAAGTAATTA 0.468 NA 17 49 0 0 0 0 SLMAP 7871 broad.mit.edu 37 3 57857389 57857389 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:57857389G>A uc003dje.1 + 12 1418 c.1213G>A c.(1213-1215)GAC>AAC p.D405N SLMAP_uc003djc.1_Intron|SLMAP_uc003djd.1_Missense_Mutation_p.D388N|SLMAP_uc003djf.1_Intron|SLMAP_uc003djg.1_Intron NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 405 Cytoplasmic (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GAGTGGCGGGGACTGCACTTT 0.358 NA 9 38 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108380811 108380811 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:108380811C>T uc003dxd.2 + 20 2709 c.2287C>T c.(2287-2289)CAG>TAG p.Q763* DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q763*|DZIP3_uc011bhm.1_Nonsense_Mutation_p.Q214* NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 763 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ATTGCACTATCAGTGTGAAGT 0.373 NA 10 23 0 0 0 0 DPPA2 151871 broad.mit.edu 37 3 109026903 109026903 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:109026903C>G uc003dxo.2 - 6 881 c.634G>C c.(634-636)GAG>CAG p.E212Q NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 212 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 AAAAAGGCCTCAACAGAAACA 0.458 NA 11 15 0 0 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119135106 119135106 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:119135106G>C uc003ecj.3 + 12 4862 c.4330G>C c.(4330-4332)GAA>CAA p.E1444Q NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1444 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GAGGCAAATAGAATGATTTCG 0.463 NA 14 31 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410602 121410602 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:121410602C>G uc003eei.3 - 14 7720 c.7594G>C c.(7594-7596)GAA>CAA p.E2532Q GOLGB1_uc010hrc.2_Missense_Mutation_p.E2537Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E2498Q NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2532 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGGATCAGTTCTGCATCTAGC 0.398 NA 51 116 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121411229 121411229 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:121411229C>G uc003eei.3 - 14 7093 c.6967G>C c.(6967-6969)GAT>CAT p.D2323H GOLGB1_uc010hrc.2_Missense_Mutation_p.D2328H|GOLGB1_uc003eej.3_Missense_Mutation_p.D2289H NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2323 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTACTTAAATCAGTCAACTGG 0.373 NA 24 66 0 0 0 0 HEG1 57493 broad.mit.edu 37 3 124731790 124731790 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:124731790C>T uc003ehs.3 - 6 2701 c.2633G>A c.(2632-2634)GGA>GAA p.G878E HEG1_uc011bke.1_Missense_Mutation_p.G978E NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 878 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GAGCTGTTTTCCAGCTGTAGT 0.507 NA 21 72 0 0 0 0 TPRA1 131601 broad.mit.edu 37 3 127298673 127298673 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:127298673G>A uc003ejl.2 - 2 459 c.168C>T c.(166-168)CTC>CTT p.L56L TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.L56L|TPRA1_uc010hsk.2_Silent_p.L56L|TPRA1_uc003ejn.2_Silent_p.L56L NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 56 Helical; Name=1; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 AGATGAGGAAGAGCACATTGG 0.582 NA 4 43 0 0 0 0 PLXND1 23129 broad.mit.edu 37 3 129324855 129324855 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:129324855C>T uc003emx.2 - 1 728 c.628G>A c.(628-630)GGC>AGC p.G210S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 210 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TACGTGGCGCCCACGAGCAGG 0.607 NA 3 12 0 0 0 0 RASA2 5922 broad.mit.edu 37 3 141272764 141272764 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:141272764C>T uc003etz.1 + 6 593 c.593C>T c.(592-594)TCT>TTT p.S198F RASA2_uc010huq.1_Missense_Mutation_p.S198F|RASA2_uc003eua.1_Missense_Mutation_p.S198F|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 198 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 GCAACAGTTTCTCTAGTGGGC 0.323 NA 21 63 0 0 0 0 SI 6476 broad.mit.edu 37 3 164733862 164733862 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:164733862G>A uc003fei.2 - 32 3828 c.3766C>T c.(3766-3768)CAG>TAG p.Q1256* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1256 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTGTGTACTGAACATCCTGA 0.333 NA HNSCC(35;0.089) 24 75 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906954 164906954 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:164906954G>C uc003fej.3 - 2 2109 c.1665C>G c.(1663-1665)GTC>GTG p.V555V SLITRK3_uc003fek.2_Silent_p.V555V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 555 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GGTCTATCTGGACAATGGCAT 0.527 NA HNSCC(40;0.11) 4 50 0 0 0 0 LRRC31 79782 broad.mit.edu 37 3 169572619 169572619 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:169572619C>G uc003fgc.1 - 6 1050 c.973G>C c.(973-975)GAT>CAT p.D325H LRRC31_uc010hwp.1_Missense_Mutation_p.D269H NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 325 LRR 4. ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ATCACGTCATCTGCTGTTAGT 0.408 NA 16 63 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180327993 180327993 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:180327993G>T uc003fkk.2 + 12 2108 c.1976G>T c.(1975-1977)AGA>ATA p.R659I TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 659 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GAGCACTATAGAAGGTGGGAA 0.403 NA 9 39 0.000274275 0.000286037 1 0 DCUN1D1 54165 broad.mit.edu 37 3 182683478 182683478 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:182683478C>T uc003fld.1 - 2 116 c.67G>A c.(67-69)GAA>AAA p.E23K DCUN1D1_uc011bqn.1_5'UTR NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 23 UBA-like. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GCTGTTTTTTCACTAGATTGT 0.323 NA 18 53 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039824 184039824 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184039824C>T uc003fnp.2 + 10 1650 c.1452C>T c.(1450-1452)CTC>CTT p.L484L EIF4G1_uc003fno.1_Silent_p.L425L|EIF4G1_uc010hxw.1_Silent_p.L320L|EIF4G1_uc003fnt.2_Silent_p.L195L|EIF4G1_uc003fnq.2_Silent_p.L397L|EIF4G1_uc003fnr.2_Silent_p.L320L|EIF4G1_uc010hxx.2_Silent_p.L491L|EIF4G1_uc003fns.2_Silent_p.L444L|EIF4G1_uc010hxy.2_Silent_p.L491L|EIF4G1_uc003fnv.3_Silent_p.L484L|EIF4G1_uc003fnu.3_Silent_p.L484L|EIF4G1_uc003fnw.2_Silent_p.L491L|EIF4G1_uc003fnx.2_Silent_p.L288L|EIF4G1_uc003fny.3_Silent_p.L288L NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 484 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAACTGCTCCCCCCAGAGA 0.418 NA 18 49 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039888 184039888 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184039888C>G uc003fnp.2 + 10 1714 c.1516C>G c.(1516-1518)CAA>GAA p.Q506E EIF4G1_uc003fno.1_Missense_Mutation_p.Q447E|EIF4G1_uc010hxw.1_Missense_Mutation_p.Q342E|EIF4G1_uc003fnt.2_Missense_Mutation_p.Q217E|EIF4G1_uc003fnq.2_Missense_Mutation_p.Q419E|EIF4G1_uc003fnr.2_Missense_Mutation_p.Q342E|EIF4G1_uc010hxx.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fns.2_Missense_Mutation_p.Q466E|EIF4G1_uc010hxy.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fnv.3_Missense_Mutation_p.Q506E|EIF4G1_uc003fnu.3_Missense_Mutation_p.Q506E|EIF4G1_uc003fnw.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fnx.2_Missense_Mutation_p.Q310E|EIF4G1_uc003fny.3_Missense_Mutation_p.Q310E NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 506 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCAGCCACTCAAGGTAAGGT 0.532 NA 14 55 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184044351 184044351 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184044351C>T uc003fnp.2 + 22 3457 c.3259C>T c.(3259-3261)CCT>TCT p.P1087S EIF4G1_uc003fnt.2_Missense_Mutation_p.P798S|EIF4G1_uc003fnq.2_Missense_Mutation_p.P1000S|EIF4G1_uc003fnr.2_Missense_Mutation_p.P923S|EIF4G1_uc010hxx.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fns.2_Missense_Mutation_p.P1047S|EIF4G1_uc010hxy.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fnv.3_Missense_Mutation_p.P1088S|EIF4G1_uc003fnu.3_Missense_Mutation_p.P1087S|EIF4G1_uc003fnw.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fnx.2_Missense_Mutation_p.P892S|EIF4G1_uc003fny.3_Missense_Mutation_p.P891S|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1087 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCTTTGCACCTGGAGGGCG 0.597 NA 18 47 0 0 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965715 195965715 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:195965715C>T uc003fwg.2 - 10 1121 c.948G>A c.(946-948)CCG>CCA p.P316P uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Silent_p.P316P NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 316 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GGCTCTGCTTCGGGCTGATGG 0.587 NA 3 12 0 0 0 0 PCGF3 10336 broad.mit.edu 37 4 755157 755157 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:755157C>G uc011bva.1 + 10 1028 c.553C>G c.(553-555)CTG>GTG p.L185V PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.L185V|PCGF3_uc010ibh.2_Missense_Mutation_p.L185V|PCGF3_uc003gbg.1_Missense_Mutation_p.L151V|PCGF3_uc003gbh.2_Missense_Mutation_p.L151V NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN ring finger protein 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding 0 CGTCTTGCATCTGAAGAAGTT 0.488 NA 18 51 0 0 0 0 GAK 2580 broad.mit.edu 37 4 844827 844827 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:844827G>A uc003gbm.3 - 26 3753 c.3554C>T c.(3553-3555)TCC>TTC p.S1185F GAK_uc003gbn.3_Missense_Mutation_p.S1106F|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Missense_Mutation_p.S410F|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S1038F NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1185 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GCCTTGATTGGACAACAGATC 0.388 NA 25 75 0 0 0 0 RGS12 6002 broad.mit.edu 37 4 3317944 3317944 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:3317944C>T uc003ggw.2 + 2 951 c.47C>T c.(46-48)TCG>TTG p.S16L RGS12_uc003ggu.2_Missense_Mutation_p.S16L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.S16L|RGS12_uc003ggx.1_Missense_Mutation_p.S16L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 16 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCTGGGCCGTCGCCCCCAAGG 0.607 NA 25 94 0 0 0 0 SLC34A2 10568 broad.mit.edu 37 4 25676182 25676182 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:25676182C>T uc003grr.2 + 12 1470 c.1389C>T c.(1387-1389)ATC>ATT p.I463I SLC34A2_uc003grs.2_Silent_p.I462I|SLC34A2_uc010iev.2_Silent_p.I462I NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 463 Extracellular (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GCTCCAACATCGGCACCACCA 0.592 NA 15 58 0 0 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490651 48490651 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:48490651G>C uc003gyc.2 + 3 1228 c.1009G>C c.(1009-1011)GGT>CGT p.G337R ZAR1_uc003gyd.2_5'Flank NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 337 Cytoplasmic (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 TCTGGAAACAGGTAGTCAGAA 0.443 NA 36 95 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62679581 62679581 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:62679581C>G uc010ihh.2 + 6 1423 c.1250C>G c.(1249-1251)TCT>TGT p.S417C LPHN3_uc003hcq.3_Missense_Mutation_p.S417C|LPHN3_uc003hcs.1_Missense_Mutation_p.S246C NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 417 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 caccttgactctgagctagaa 0.144 NA 7 40 0 0 0 0 SULT1E1 6783 broad.mit.edu 37 4 70710039 70710039 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:70710039T>C uc003heo.2 - 7 725 c.612A>G c.(610-612)ATA>ATG p.I204M NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 204 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 GTATCAATTTTATCACCTCTT 0.343 NA 8 63 0 0 0 0 PPBP 5473 broad.mit.edu 37 4 74853901 74853901 + Splice_Site SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:74853901G>A uc003hhj.2 - 1 1 c.-79_splice c.e1-1 NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) CAAGTCTGCAGATAAGTGGCT 0.478 NA 9 19 0 0 0 0 CXCL3 2921 broad.mit.edu 37 4 74904074 74904074 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:74904074G>A uc003hhl.2 - 2 319 c.157C>T c.(157-159)CAC>TAC p.H53Y NM_002090 NP_002081 P19876 CXCL3_HUMAN chemokine (C-X-C motif) ligand 3 53 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1) 1 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) TTCTTGAGGTGAATTCCCTGC 0.607 NA 15 61 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123109097 123109097 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:123109097C>G uc003ieh.2 + 7 720 c.675C>G c.(673-675)ATC>ATG p.I225M KIAA1109_uc003iei.1_Translation_Start_Site NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 225 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTCTGTGCATCAACTTTGATG 0.358 NA 13 52 0 0 0 0 SPATA5 166378 broad.mit.edu 37 4 123844435 123844435 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:123844435G>A uc003iez.3 + 1 211 c.138G>A c.(136-138)CTG>CTA p.L46L SPATA5_uc003iey.2_Silent_p.L46L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 46 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 CCGGGACTCTGACGGTGACCA 0.587 NA 35 84 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126238052 126238052 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:126238052G>T uc003ifj.3 + 1 486 c.486G>T c.(484-486)TCG>TCT p.S162S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 162 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCACCGACTCGGACATCGGCT 0.617 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 0.00909568 0.00932409 1 0 SETD7 80854 broad.mit.edu 37 4 140468192 140468192 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:140468192C>T uc003ihw.2 - 2 338 c.52G>A c.(52-54)GAT>AAT p.D18N SETD7_uc003ihx.2_Missense_Mutation_p.D18N NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN SET domain-containing protein 7 18 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.156) AATCCGTCATCGTCCAGGTGC 0.522 NA 13 40 0 0 0 0 MAML3 55534 broad.mit.edu 37 4 140811093 140811093 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:140811093C>T uc003ihz.1 - 2 2249 c.1497G>A c.(1495-1497)CAG>CAA p.Q499Q MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 499 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.264 NA 4 29 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156281397 156281397 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:156281397C>A uc003ios.2 - 7 1237 c.973G>T c.(973-975)GAT>TAT p.D325Y MAP9_uc011cin.1_Missense_Mutation_p.D300Y|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.D324Y NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 325 Potential. cell division|mitosis cytoplasm|microtubule|spindle p.D325Y(1) ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GTTCTGTCATCATCCATAATC 0.378 NA 13 42 9.31e-06 9.87e-06 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455394 187455394 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187455394G>C uc003izd.1 - 2 520 c.502C>G c.(502-504)CTC>GTC p.L168V NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 168 Extracellular (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TCGTACTGGAGAGTCCCTGCA 0.602 NA 13 60 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187628329 187628329 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187628329G>A uc003izf.2 - 2 2841 c.2653C>T c.(2653-2655)CGA>TGA p.R885* FAT1_uc010iso.1_Nonsense_Mutation_p.R885* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 885 Extracellular (Potential).|Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGCAGCTCTCGATCCAGAGGG 0.512 NA HNSCC(5;0.00058) 13 64 0 0 0 0 TARS 6897 broad.mit.edu 37 5 33455163 33455163 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:33455163C>T uc003jhy.2 + 5 862 c.567C>T c.(565-567)CTC>CTT p.L189L TARS_uc011cob.1_Silent_p.L177L|TARS_uc010iup.1_Silent_p.L130L|TARS_uc011coc.1_Silent_p.L210L|TARS_uc003jhz.2_Silent_p.L85L|TARS_uc011cod.1_Silent_p.L68L NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 189 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) ACATGTACCTCGAAGAAGGGT 0.388 NA 13 27 0 0 0 0 NIPBL 25836 broad.mit.edu 37 5 36976261 36976261 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:36976261C>G uc003jkl.3 + 9 1751 c.1252C>G c.(1252-1254)CAA>GAA p.Q418E NIPBL_uc003jkk.3_Missense_Mutation_p.Q418E|NIPBL_uc003jkm.1_Missense_Mutation_p.Q297E NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 418 Gln-rich. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAATGCTGCTCAATGTTTGTC 0.413 NA 21 58 0 0 0 0 SFRS12 140890 broad.mit.edu 37 5 65459693 65459693 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:65459693G>C uc003juo.2 + 7 1141 c.481G>C c.(481-483)GAA>CAA p.E161Q SFRS12_uc003jun.2_Missense_Mutation_p.E277Q|SFRS12_uc010iwy.2_Missense_Mutation_p.E161Q NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 161 mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) GGAGTTAGAAGAAGTAATGAA 0.363 NA 18 61 0 0 0 0 BDP1 55814 broad.mit.edu 37 5 70841044 70841044 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:70841044G>A uc003kbp.1 + 32 7005 c.6742G>A c.(6742-6744)GAG>AAG p.E2248K BDP1_uc003kbo.2_Missense_Mutation_p.E2248K|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2248 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCCTGTGCCAGAGGTAAAAGA 0.328 NA 12 48 0 0 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102472491 102472491 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:102472491C>T uc003kod.3 + 4 885 c.366C>T c.(364-366)ATC>ATT p.I122I PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.I122I|PPIP5K2_uc010jbo.1_Silent_p.I44I NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 122 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 CATTTGTAATCAATGACTTGA 0.303 NA 42 135 0 0 0 0 FBXL17 64839 broad.mit.edu 37 5 107700445 107700445 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:107700445G>C uc011cvc.1 - 3 1775 c.1368C>G c.(1366-1368)CTC>CTG p.L456L FBXL17_uc003kon.3_Silent_p.L58L NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 456 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TTACCTGCTTGAGTCCTTCAT 0.343 NA 19 60 0 0 0 0 MCC 4163 broad.mit.edu 37 5 112418582 112418582 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:112418582C>T uc003kqj.3 - 9 1719 c.1189G>A c.(1189-1191)GAG>AAG p.E397K MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E587K|MCC_uc011cwb.1_Missense_Mutation_p.E397K|MCC_uc010jcd.1_Missense_Mutation_p.E359K NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 397 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTTTCCACCTCAAACTCTCTA 0.478 NA 23 81 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127637197 127637197 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:127637197C>G uc003kuu.2 - 47 6362 c.5923G>C c.(5923-5925)GAT>CAT p.D1975H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1975 EGF-like 33; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGCACTCATCTATGTCTGTA 0.353 NA 26 73 0 0 0 0 HSPA4 3308 broad.mit.edu 37 5 132439956 132439956 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:132439956C>G uc003kyj.2 + 19 2632 c.2351C>G c.(2350-2352)TCA>TGA p.S784* NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 784 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTATAATTTCAAAGCCCAAA 0.433 NA 11 41 0 0 0 0 SMAD5 4090 broad.mit.edu 37 5 135496568 135496568 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:135496568C>T uc003lbj.1 + 5 871 c.427C>T c.(427-429)CGT>TGT p.R143C SMAD5_uc003lbk.1_Missense_Mutation_p.R143C|SMAD5_uc003lbl.1_Missense_Mutation_p.R143C NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN SMAD family member 5 143 BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTAGTGCCTCGTCATAATGA 0.418 NA 22 91 0 0 0 0 SLC23A1 9963 broad.mit.edu 37 5 138707763 138707763 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:138707763C>T uc003leh.2 - 14 1826 c.1729G>A c.(1729-1731)GAT>AAT p.D577N SLC23A1_uc003leg.2_Missense_Mutation_p.D581N NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 577 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GCAATCTGATCTTTTGAACTT 0.398 NA 37 138 0 0 0 0 UBE2D2 7322 broad.mit.edu 37 5 138979957 138979957 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:138979957G>C uc003ler.2 + 2 651 c.25G>C c.(25-27)GAA>CAA p.E9Q UBE2D2_uc003leq.2_5'UTR NM_003339 NP_003330 P62837 UB2D2_HUMAN ubiquitin-conjugating enzyme E2D 2 isoform 1 9 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTTCTGTAGGAATTGAATGA 0.348 NA 9 24 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625334 140625334 + Missense_Mutation SNP G G A rs2907300 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:140625334G>A uc003lje.2 + 1 188 c.188G>A c.(187-189)GGA>GAA p.G63E NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 63 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGAGCGGGGAGCCCGGGTA 0.552 NA 11 40 0 0 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140743929 140743929 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:140743929G>A uc003lju.1 + 1 32 c.32G>A c.(31-33)GGA>GAA p.G11E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.G11E NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 11 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGCTGCGGAGAGCTGCTG 0.582 NA 6 20 0 0 0 0 SPINK9 643394 broad.mit.edu 37 5 147715230 147715230 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:147715230C>T uc003lpe.1 + 1 109 c.54C>T c.(52-54)TTC>TTT p.F18F uc003lpb.1_Intron NM_001040433 NP_001035523 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 18 extracellular region protein binding|serine-type endopeptidase inhibitor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCATGTTCAGTGAGTATC 0.433 NA 10 80 0 0 0 0 ZNF300 91975 broad.mit.edu 37 5 150275396 150275396 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:150275396C>G uc003lsy.1 - 6 1672 c.1405G>C c.(1405-1407)GAA>CAA p.E469Q IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 469 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCCACATTCAGTACATTCA 0.413 NA 12 45 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153026577 153026577 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:153026577C>T uc003lva.3 + 3 675 c.310C>T c.(310-312)CTC>TTC p.L104F GRIA1_uc003luy.3_Missense_Mutation_p.L104F|GRIA1_uc003luz.3_Missense_Mutation_p.L9F|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.L35F|GRIA1_uc011dcy.1_Missense_Mutation_p.L114F|GRIA1_uc011dcz.1_Missense_Mutation_p.L114F|GRIA1_uc010jia.1_Missense_Mutation_p.L84F NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 104 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTGTGGGGCCCTCCACGTCTG 0.498 NA 29 82 0 0 0 0 FAM114A2 10827 broad.mit.edu 37 5 153390822 153390822 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:153390822G>A uc003lvb.2 - 9 1560 c.972C>T c.(970-972)TCC>TCT p.S324S FAM114A2_uc003lvc.2_Silent_p.S324S|FAM114A2_uc003lvd.2_Silent_p.S324S|FAM114A2_uc003lve.2_Silent_p.S140S|FAM114A2_uc011dda.1_Silent_p.S254S NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 324 purine nucleotide binding 0 TCTCTGGTTTGGAGGAAACGT 0.368 NA 11 53 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154397020 154397020 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:154397020G>C uc010jih.1 + 1 3761 c.3601G>C c.(3601-3603)GAA>CAA p.E1201Q NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1201 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGAGCAACAGAATACCAACA 0.507 NA 7 25 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161322869 161322869 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:161322869G>A uc010jiw.2 + 10 1522 c.1054G>A c.(1054-1056)GAA>AAA p.E352K GABRA1_uc010jix.2_Missense_Mutation_p.E352K|GABRA1_uc010jiy.2_Missense_Mutation_p.E352K|GABRA1_uc003lyx.3_Missense_Mutation_p.E352K|GABRA1_uc010jiz.2_Missense_Mutation_p.E352K|GABRA1_uc010jja.2_Missense_Mutation_p.E352K|GABRA1_uc010jjb.2_Missense_Mutation_p.E352K NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 352 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TGTGGTTCCAGAAAAGGTAAA 0.393 NA 26 62 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161324342 161324342 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:161324342C>A uc010jiw.2 + 11 1753 c.1285C>A c.(1285-1287)CTG>ATG p.L429M GABRA1_uc010jix.2_Missense_Mutation_p.L429M|GABRA1_uc010jiy.2_Missense_Mutation_p.L429M|GABRA1_uc003lyx.3_Missense_Mutation_p.L429M|GABRA1_uc010jiz.2_Missense_Mutation_p.L429M|GABRA1_uc010jja.2_Missense_Mutation_p.L429M|GABRA1_uc010jjb.2_Missense_Mutation_p.L429M NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 429 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGCCTTCCCGCTGCTATTTGG 0.428 NA 24 101 7.88e-14 8.55e-14 1 0 DRD1 1812 broad.mit.edu 37 5 174869513 174869513 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:174869513G>A uc003mcz.2 - 2 1535 c.590C>T c.(589-591)TCA>TTA p.S197L NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 197 Helical; Name=5; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TACAGAGGATGAGATGGCATA 0.502 NA 13 84 0 0 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026823 176026823 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176026823C>T uc003meo.1 - 2 188 c.13G>A c.(13-15)GAA>AAA p.E5K NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 5 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGGGTCTTCAGCAGTGTCC 0.612 NA 3 16 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709547 176709547 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176709547G>C uc003mfr.3 + 19 6112 c.5974G>C c.(5974-5976)GAT>CAT p.D1992H NSD1_uc003mft.3_Missense_Mutation_p.D1723H|NSD1_uc011dfx.1_Missense_Mutation_p.D1640H NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1992 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAAGAACATGATATCACTAA 0.378 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 29 81 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709577 176709577 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176709577G>C uc003mfr.3 + 19 6142 c.6004G>C c.(6004-6006)GAC>CAC p.D2002H NSD1_uc003mft.3_Missense_Mutation_p.D1733H|NSD1_uc011dfx.1_Missense_Mutation_p.D1650H NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2002 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCTCACCCTAGACAAAGTAAG 0.388 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 23 66 0 0 0 0 SERPINB6 5269 broad.mit.edu 37 6 2954925 2954925 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:2954925G>C uc003muk.2 - 3 2326 c.331C>G c.(331-333)CAA>GAA p.Q111E SERPINB6_uc003mui.2_5'UTR|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.Q111E|SERPINB6_uc003mum.2_Missense_Mutation_p.Q111E|SERPINB6_uc003mun.2_Missense_Mutation_p.Q111E|SERPINB6_uc003muo.2_Missense_Mutation_p.Q111E NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 111 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TAGAATTTTTGGCAGGAATCT 0.443 NA 12 42 0 0 0 0 BMP6 654 broad.mit.edu 37 6 7861772 7861772 + Missense_Mutation SNP C C G rs147293908 byFrequency TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:7861772C>G uc003mxu.3 + 3 1124 c.946C>G c.(946-948)CTG>GTG p.L316V NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 316 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CACTAGCAATCTGTGGGTTGT 0.502 NA 30 88 0 0 0 0 TFAP2A 7020 broad.mit.edu 37 6 10404933 10404933 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:10404933G>C uc003myr.2 - 4 824 c.572C>G c.(571-573)TCC>TGC p.S191C TFAP2A_uc003myq.2_Missense_Mutation_p.S185C|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.S191C|TFAP2A_uc003myt.2_Missense_Mutation_p.S187C|TFAP2A_uc003myu.1_Missense_Mutation_p.S191C NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 191 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGGATGGCGGAGACGGCATT 0.627 NA 11 52 0 0 0 0 NRSN1 140767 broad.mit.edu 37 6 24145891 24145891 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:24145891A>G uc010jpq.1 + 4 542 c.305A>G c.(304-306)GAC>GGC p.D102G NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 102 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 GTGGTGGTCGACACACATGCT 0.527 NA 34 31 0 0 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862525 25862525 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:25862525G>C uc003nfi.3 - 3 349 c.239C>G c.(238-240)TCT>TGT p.S80C SLC17A3_uc003nfk.3_Missense_Mutation_p.S80C|SLC17A3_uc011djz.1_Missense_Mutation_p.S80C|SLC17A3_uc011dka.1_Missense_Mutation_p.S80C NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 80 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 CAGCACCTCAGAGGAATCATT 0.428 NA 5 64 0 0 0 0 HIST1H1A 3024 broad.mit.edu 37 6 26017460 26017460 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:26017460C>T uc003nfo.2 - 1 581 c.501G>A c.(499-501)AAG>AAA p.K167K NM_005325 NP_005316 Q02539 H11_HUMAN histone cluster 1, H1a 167 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding ovary(2) 2 TTTTTGGATTCTTGGAGGATT 0.473 NA 41 156 0 0 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225488 26225488 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:26225488G>A uc003nhb.2 + 2 466 c.106G>A c.(106-108)GTG>ATG p.V36M HIST1H3E_uc003nhc.3_Missense_Mutation_p.V36M NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 36 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CACGGGCGGCGTGAAGAAGCC 0.622 NA 31 24 0 0 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114494 27114494 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:27114494C>G uc003nix.1 - 1 126 c.84G>C c.(82-84)AAG>AAC p.K28N HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 28 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 GCTTGCGCTTCTTGCCGTCCT 0.597 NA 20 142 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29912344 29912344 + Silent SNP G G A rs45513603 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:29912344G>A uc003nol.2 + 5 963 c.963G>A c.(961-963)GTG>GTA p.V321V HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Silent_p.V200V|HLA-A_uc003nok.2_Silent_p.V200V|HLA-A_uc003non.2_Silent_p.V321V|HLA-A_uc003noo.2_Silent_p.V321V|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Silent_p.V200V|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Silent_p.V200V|HLA-A_uc011dmd.1_Silent_p.V200V NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 321 Helical; (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TTGGAGCTGTGATCACTGGAG 0.592 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 29 47 0 0 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525604 31525604 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31525604G>A uc003nub.2 + 3 653 c.534G>A c.(532-534)CAG>CAA p.Q178Q NFKBIL1_uc011dnr.1_Intron|NFKBIL1_uc011dns.1_Silent_p.Q155Q|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Intron NM_005007 NP_004998 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene 178 cytoplasmic sequestering of transcription factor protein binding 0 ACGAGTGGCAGGAAGTCATGG 0.567 NA 4 30 0 0 0 0 LTB 4050 broad.mit.edu 37 6 31548552 31548552 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31548552G>A uc003nuk.2 - 4 677 c.669C>T c.(667-669)ATC>ATT p.I223I LTB_uc003nul.2_3'UTR NM_002341 NP_002332 Q06643 TNFC_HUMAN lymphotoxin-beta isoform a 223 Extracellular (Potential). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding 0 Infliximab(DB00065)|Simvastatin(DB00641) CGGGGTGACTGATGTTGACGT 0.622 NA 6 22 0 0 0 0 BAT3 7917 broad.mit.edu 37 6 31606973 31606973 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31606973C>T uc003nvg.3 - 25 3648 c.3334G>A c.(3334-3336)GAA>AAA p.E1112K BAT3_uc003nvf.3_Missense_Mutation_p.E1106K|BAT3_uc003nvh.3_Missense_Mutation_p.E1106K|BAT3_uc003nvi.3_Missense_Mutation_p.E1106K|BAT3_uc011dnw.1_Missense_Mutation_p.E1057K|BAT3_uc011dnx.1_Missense_Mutation_p.E883K NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 1112 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TTGGGGTCTTCCTGCAGTCGT 0.537 NA 3 19 0 0 0 0 CYP21A2 1589 broad.mit.edu 37 6 31974817 31974817 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31974817C>T uc010jtp.2 + 7 797 c.679C>T c.(679-681)CTG>TTG p.L227L CYP21A2_uc011dpb.1_Silent_p.L197L P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 226 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 TCTCCGGAGGCTGAAGCAGGC 0.627 NA 4 11 0 0 0 0 TAP2 6891 broad.mit.edu 37 6 32782246 32782246 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:32782246C>T uc011dqf.1 - 14 2437 c.2315G>A c.(2314-2316)AGA>AAA p.R772K HLA-DOB_uc003oca.2_Missense_Mutation_p.R165K|HLA-DOB_uc011dqg.1_Missense_Mutation_p.R165K NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GACCCCAGCTCTCTCCTCCTG 0.522 NA 29 98 0 0 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284041 33284041 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:33284041G>A uc003oeb.2 - 2 805 c.653C>T c.(652-654)TCA>TTA p.S218L TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S218L NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGAGGAAGATGAGAAATCAGT 0.612 NA 6 39 0 0 0 0 TREM1 54210 broad.mit.edu 37 6 41250194 41250194 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:41250194G>C uc003oqf.1 - 2 409 c.345C>G c.(343-345)ATC>ATG p.I115M TREM1_uc003oqg.1_Missense_Mutation_p.I115M NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 115 Extracellular (Potential).|Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) GAGGCTGGTAGATCACACACT 0.537 NA 6 27 0 0 0 0 PRPH2 5961 broad.mit.edu 37 6 42666224 42666224 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:42666224G>A uc003osk.2 - 3 1136 c.850C>T c.(850-852)CGC>TGC p.R284C NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 284 Helical; (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGTAGGTAGCGCAGCCCAATT 0.587 NA 11 21 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46660213 46660213 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:46660213G>T uc003oyj.2 + 1 4348 c.4348G>T c.(4348-4350)GAA>TAA p.E1450* TDRD6_uc010jze.2_Nonsense_Mutation_p.E1444* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1450 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AATAAGATGTGAATTTGTTAA 0.383 NA 33 109 2.51e-30 2.75e-30 1 0 CRISP3 10321 broad.mit.edu 37 6 49704110 49704110 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:49704110C>T uc003ozs.2 - 3 198 c.183G>A c.(181-183)CTG>CTA p.L61L NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 61 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTACCATCTTCAGCATGTTTC 0.438 NA 43 96 0 0 0 0 PGK2 5232 broad.mit.edu 37 6 49754450 49754450 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:49754450G>A uc003ozu.2 - 1 558 c.451C>T c.(451-453)CGA>TGA p.R151* NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 151 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AGTGATGCTCGGAAGGCTTCT 0.502 NA 20 52 0 0 0 0 IL17A 3605 broad.mit.edu 37 6 52053869 52053869 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:52053869G>C uc003pak.1 + 3 292 c.247G>C c.(247-249)GAG>CAG p.E83Q NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 83 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) TGAGGACCCTGAGAGATATCC 0.502 NA 8 28 0 0 0 0 GSTA1 2938 broad.mit.edu 37 6 52659022 52659022 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:52659022C>T uc003paz.2 - 5 427 c.315G>A c.(313-315)ATG>ATA p.M105I NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 105 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GAAGGAGGATCATTTCACCCA 0.378 NA 43 108 0 0 0 0 FAM83B 222584 broad.mit.edu 37 6 54806332 54806332 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:54806332C>G uc003pck.2 + 5 2679 c.2563C>G c.(2563-2565)CAA>GAA p.Q855E NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 855 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TAGCCCATCTCAAGAGATAAA 0.438 NA 7 34 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111688626 111688626 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:111688626G>A uc003puy.3 - 14 6688 c.6365C>T c.(6364-6366)TCT>TTT p.S2122F REV3L_uc003pux.3_Missense_Mutation_p.S2044F|REV3L_uc003puz.3_Missense_Mutation_p.S2044F|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2122 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AATTACTGGAGAATCAGGGGA 0.438 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 19 173 0 0 0 0 AIG1 51390 broad.mit.edu 37 6 143486275 143486275 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:143486275G>A uc003qjh.2 + 3 394 c.354G>A c.(352-354)CCG>CCA p.P118P AIG1_uc003qjf.2_Silent_p.P108P|AIG1_uc003qji.2_Silent_p.P56P|AIG1_uc011edw.1_Silent_p.P118P|AIG1_uc003qjg.2_Silent_p.P118P NM_016108 NP_057192 Q9NVV5 AIG1_HUMAN androgen-induced 1 118 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) TGATATACCCGAAGCTGCTGG 0.358 NA 22 100 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151939129 151939129 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:151939129G>A uc003qol.2 + 11 2084 c.1995G>A c.(1993-1995)GTG>GTA p.V665V NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 665 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GCTTGAACGTGACCAGCCTTG 0.443 NA 5 71 0 0 0 0 WTAP 9589 broad.mit.edu 37 6 160164726 160164726 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:160164726G>T uc003qsl.2 + 5 397 c.175G>T c.(175-177)GAA>TAA p.E59* WTAP_uc010kjx.2_Nonsense_Mutation_p.E59*|WTAP_uc003qsk.2_Nonsense_Mutation_p.E59*|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Nonsense_Mutation_p.E59* NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 59 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) AAGAGAGTCTGAAGAAAAACT 0.363 NA 9 33 2.18e-05 2.3e-05 1 0 THBS2 7058 broad.mit.edu 37 6 169623478 169623478 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:169623478C>G uc003qwt.2 - 19 3114 c.2866G>C c.(2866-2868)GAG>CAG p.E956Q NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 956 TSP type-3 8. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AAGTCTGTCTCACTGATGGCA 0.468 NA 13 67 0 0 0 0 TBP 6908 broad.mit.edu 37 6 170873691 170873691 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:170873691C>T uc003qxt.2 + 4 788 c.556C>T c.(556-558)CGT>TGT p.R186C TBP_uc003qxu.2_Missense_Mutation_p.R186C|TBP_uc011ehf.1_Missense_Mutation_p.R166C NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 186 1 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) CATTGCACTTCGTGCCCGAAA 0.318 NA 11 34 0 0 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6089666 6089666 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:6089666C>G uc003spp.2 - 3 434 c.288G>C c.(286-288)CAG>CAC p.Q96H EIF2AK1_uc003spq.2_Missense_Mutation_p.Q96H|EIF2AK1_uc011jwm.1_Intron NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 96 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TGATAAACGTCTGGCAAAGTA 0.318 NA 9 35 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:6426892C>A uc003spx.2 + 2 326 c.85C>A c.(85-87)CCT>ACT p.P29T RAC1_uc003spw.2_Missense_Mutation_p.P29T NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353 NA 20 54 9.96e-16 1.08e-15 1 0 TMEM106B 54664 broad.mit.edu 37 7 12254482 12254482 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:12254482G>A uc011jxk.1 + 3 446 c.46G>A c.(46-48)GAT>AAT p.D16N TMEM106B_uc003ssh.2_Missense_Mutation_p.D16N NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 16 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) AAGCAAAGAAGATGCTTATGA 0.353 NA 11 31 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21678666 21678666 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:21678666G>T uc003svc.2 + 28 4973 c.4942G>T c.(4942-4944)GGA>TGA p.G1648* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1648 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCTCTCAAAAGGAGCTCAGCC 0.398 NA Kartagener_syndrome 9 47 3.1e-07 3.31e-07 1 0 STK31 56164 broad.mit.edu 37 7 23768842 23768842 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:23768842G>C uc003sws.3 + 6 524 c.457G>C c.(457-459)GAT>CAT p.D153H STK31_uc003swt.3_Missense_Mutation_p.D130H|STK31_uc011jze.1_Missense_Mutation_p.D153H|STK31_uc010kuq.2_Missense_Mutation_p.D130H NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 153 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CATTCCTTCTGATCAAGAAGT 0.328 NA 10 22 0 0 0 0 CHN2 1124 broad.mit.edu 37 7 29552289 29552289 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:29552289G>A uc003szz.2 + 13 1782 c.1345G>A c.(1345-1347)GAT>AAT p.D449N CHN2_uc011jzs.1_Missense_Mutation_p.D524N|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.D414N|CHN2_uc011jzt.1_Missense_Mutation_p.D462N|CHN2_uc010kvd.2_Missense_Mutation_p.D305N|CHN2_uc011jzu.1_Missense_Mutation_p.D434N|CHN2_uc010kvg.2_Missense_Mutation_p.D267N|CHN2_uc010kvh.2_Missense_Mutation_p.D209N|CHN2_uc010kvi.2_Missense_Mutation_p.D241N|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.D313N|CHN2_uc010kvf.2_Missense_Mutation_p.D255N|CHN2_uc010kvj.2_Missense_Mutation_p.D222N|CHN2_uc010kvk.2_Missense_Mutation_p.D124N|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.D268N|CHN2_uc011jzv.1_Missense_Mutation_p.D242N NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 449 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CACCCTGCATGATATGCGGTA 0.463 NA 13 49 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31614170 31614170 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:31614170G>T uc003tcj.1 + 7 1405 c.412G>T c.(412-414)GAA>TAA p.E138* CCDC129_uc011kad.1_Nonsense_Mutation_p.E148*|CCDC129_uc003tci.1_Nonsense_Mutation_p.E137*|CCDC129_uc011kae.1_Nonsense_Mutation_p.E164*|CCDC129_uc003tck.1_Nonsense_Mutation_p.E46* NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 138 0 TGAATGGCTGGAATTTTGGGA 0.438 NA 29 102 4.03e-09 4.35e-09 1 0 UPP1 7378 broad.mit.edu 37 7 48147942 48147942 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:48147942G>T uc003toj.2 + 10 1450 c.921G>T c.(919-921)CTG>CTT p.L307L UPP1_uc003tok.2_Silent_p.L307L|UPP1_uc003tol.2_Silent_p.L307L|UPP1_uc011kch.1_Silent_p.L100L|UPP1_uc003ton.2_Silent_p.L170L|UPP1_uc003too.2_Silent_p.L170L NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 307 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 AGAAGAAACTGAGCAAGGCCT 0.567 NA 11 30 0.000673444 0.000697866 1 0 EGFR 1956 broad.mit.edu 37 7 55241688 55241688 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:55241688C>G uc003tqk.2 + 18 2382 c.2136C>G c.(2134-2136)TTC>TTG p.F712L EGFR_uc010kzg.1_Missense_Mutation_p.F667L|EGFR_uc011kco.1_Missense_Mutation_p.F659L NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 712 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.F712L(2)|p.F712S(1)|p.F712F(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAACTGAATTCAAAAAGATCA 0.562 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 16 49 0 0 0 0 PHTF2 57157 broad.mit.edu 37 7 77558594 77558594 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:77558594C>G uc003ugs.3 + 11 1414 c.1288C>G c.(1288-1290)CAG>GAG p.Q430E PHTF2_uc003ugp.2_Missense_Mutation_p.Q392E|PHTF2_uc003ugq.3_Missense_Mutation_p.Q392E|PHTF2_uc010ldv.2_Missense_Mutation_p.Q392E|PHTF2_uc003ugt.3_Missense_Mutation_p.Q396E|PHTF2_uc003ugu.3_Missense_Mutation_p.Q392E|PHTF2_uc003ugv.2_Missense_Mutation_p.Q255E|PHTF2_uc010ldw.1_Missense_Mutation_p.Q255E NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 GGAAAATCATCAGATTAATCC 0.388 NA 5 14 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598239 81598239 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:81598239C>T uc003uhr.1 - 29 2615 c.2359G>A c.(2359-2361)GAA>AAA p.E787K CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 799 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATATATATTTCTACAGCTTTG 0.269 NA 16 76 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82586178 82586178 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:82586178C>T uc003uhx.2 - 5 4380 c.4091G>A c.(4090-4092)GGA>GAA p.G1364E PCLO_uc003uhv.2_Missense_Mutation_p.G1364E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1295 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAAGAATATCCCGTGTCGCT 0.423 NA 6 24 0 0 0 0 ABCB1 5243 broad.mit.edu 37 7 87179592 87179592 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:87179592C>G uc003uiz.1 - 13 1663 c.1245G>C c.(1243-1245)CTG>CTC p.L415L ABCB1_uc011khc.1_Silent_p.L351L NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 415 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCTGCACCTTCAGGTTCAGAC 0.502 NA 8 35 0 0 0 0 ARPC1B 10095 broad.mit.edu 37 7 98992106 98992106 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:98992106C>G uc003upz.2 + 10 1202 c.1113C>G c.(1111-1113)ATC>ATG p.I371M ARPC1B_uc003uqa.2_Missense_Mutation_p.I371M|ARPC1B_uc003uqb.2_Missense_Mutation_p.I371M|ARPC1B_uc003uqc.2_3'UTR|ARPC1B_uc003uqd.2_Missense_Mutation_p.I183M NM_005720 NP_005711 O15143 ARC1B_HUMAN actin related protein 2/3 complex subunit 1B 371 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ACCTCAAGATCAAATGACCTG 0.572 NA 15 52 0 0 0 0 TRIM4 89122 broad.mit.edu 37 7 99489924 99489924 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:99489924C>T uc003usd.2 - 7 1495 c.1365G>A c.(1363-1365)GGG>GGA p.G455G TRIM4_uc003use.2_Silent_p.G429G|TRIM4_uc011kjc.1_Silent_p.G285G NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 455 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) AGGAGACATTCCCAGTCCCAC 0.557 NA 23 102 0 0 0 0 C7orf59 389541 broad.mit.edu 37 7 99751027 99751027 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:99751027C>T uc003utq.2 + 3 155 c.89C>T c.(88-90)TCT>TTT p.S30F NM_001008395 NP_001008396 Q0VGL1 CG059_HUMAN hypothetical protein LOC389541 30 0 ATGCAGTCATCTGGGGACCTG 0.458 NA 32 114 0 0 0 0 SRPK2 6733 broad.mit.edu 37 7 104783666 104783666 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:104783666C>G uc003vct.2 - 9 1079 c.892G>C c.(892-894)GAA>CAA p.E298Q SRPK2_uc003vcu.2_Missense_Mutation_p.E298Q|SRPK2_uc003vcv.2_Missense_Mutation_p.E309Q|SRPK2_uc003vcw.1_Missense_Mutation_p.E298Q NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 298 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ATTTTCCTTTCAGCTTCTCGC 0.408 NA 18 81 0 0 0 0 C7orf53 286006 broad.mit.edu 37 7 112124970 112124970 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:112124970C>T uc011kmq.1 + 2 234 c.99C>T c.(97-99)CTC>CTT p.L33L C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.L33L NM_001134468 NP_001127940 Q8N8F7 CG053_HUMAN hypothetical protein LOC286006 33 integral to membrane ovary(1) 1 AACTAAACCTCTGTCCAGCCG 0.478 NA 25 74 0 0 0 0 NDUFA5 4698 broad.mit.edu 37 7 123185709 123185709 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:123185709C>T uc003vks.2 - 4 314 c.205G>A c.(205-207)GAA>AAA p.E69K NDUFA5_uc003vkr.2_RNA NM_005000 NP_004991 Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 69 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) AGTTGGTCTTCTAATTTTTTA 0.313 NA 13 51 0 0 0 0 TMEM209 84928 broad.mit.edu 37 7 129841908 129841908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:129841908C>T uc003vpn.2 - 5 478 c.355G>A c.(355-357)GAT>AAT p.D119N TMEM209_uc010lmc.1_Missense_Mutation_p.D119N|TMEM209_uc003vpo.2_Missense_Mutation_p.D119N NM_032842 NP_116231 Q96SK2 TM209_HUMAN transmembrane protein 209 119 integral to membrane ovary(2)|large_intestine(1) 3 Melanoma(18;0.0435) GCTGCCAGATCATGTGGAGGC 0.428 NA 7 29 0 0 0 0 WEE2 494551 broad.mit.edu 37 7 141408625 141408625 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:141408625G>A uc003vwn.2 + 1 473 c.67G>A c.(67-69)GAG>AAG p.E23K FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 23 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) TGAGGAGACTGAGATTGAAGG 0.443 NA 24 73 0 0 0 0 TRPV5 56302 broad.mit.edu 37 7 142605909 142605909 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:142605909G>C uc003wby.1 - 15 2225 c.1961C>G c.(1960-1962)TCA>TGA p.S654* NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 654 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CTCCTTGTCTGAGTTCTTGAA 0.522 NA 9 34 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149482281 149482281 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:149482281C>G uc010lpk.2 + 21 2955 c.2955C>G c.(2953-2955)CCC>CCG p.P985P SSPO_uc010lpl.1_Missense_Mutation_p.P321R NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 985 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGTACCTGCCCAACGCCACCA 0.612 NA 11 50 0 0 0 0 GBX1 2636 broad.mit.edu 37 7 150845999 150845999 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:150845999G>A uc011kvg.1 - 2 1001 c.769C>T c.(769-771)CCT>TCT p.P257S NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 257 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCCCCAGGAGCTGTGACC 0.582 NA 26 69 0 0 0 0 XKR6 286046 broad.mit.edu 37 8 10755509 10755509 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:10755509C>G uc003wtk.1 - 3 1906 c.1879G>C c.(1879-1881)GAC>CAC p.D627H NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 627 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AGTGGTCCGTCTCGATATCGA 0.463 NA 20 34 0 0 0 0 FGL1 2267 broad.mit.edu 37 8 17731930 17731930 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:17731930G>A uc003wxx.2 - 5 669 c.345C>T c.(343-345)TCC>TCT p.S115S FGL1_uc003wxy.2_Silent_p.S115S|FGL1_uc003wxz.2_Silent_p.S115S|FGL1_uc003wya.2_Silent_p.S115S|FGL1_uc003wyb.2_Silent_p.S115S|FGL1_uc003wyc.2_Silent_p.S115S|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.S165S|FGL1_uc003wyf.2_Silent_p.S85S NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 115 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CTCCTCCATCGGACATGTCAC 0.383 NA 29 44 0 0 0 0 NKX3-1 4824 broad.mit.edu 37 8 23538827 23538827 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:23538827G>C uc011kzx.1 - 2 660 c.612C>G c.(610-612)GCC>GCG p.A204A NKX3-1_uc003xdv.1_Intron NM_006167 NP_006158 Q99801 NKX31_HUMAN NK3 homeobox 1 204 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding 0 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CCCGGGAGAAGGCCTCCTCTT 0.562 NA 4 44 0 0 0 0 GPR124 25960 broad.mit.edu 37 8 37687368 37687368 + Splice_Site SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:37687368G>T uc003xkj.2 + 6 918 c.555_splice c.e6-1 p.V185_splice GPR124_uc010lvy.2_Splice_Site_p.V185_splice NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCACCCTGCAGGGACTTGGGC 0.667 NA 11 39 5.51e-06 5.85e-06 1 0 SNAI2 6591 broad.mit.edu 37 8 49832516 49832516 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:49832516C>G uc003xqp.2 - 2 728 c.564G>C c.(562-564)AAG>AAC p.K188N NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 188 C2H2-type 3. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TGCCGCAGATCTTGCAAACAC 0.458 NA 9 72 0 0 0 0 SGK3 23678 broad.mit.edu 37 8 67759505 67759505 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:67759505G>C uc003xwr.2 + 15 1451 c.1152G>C c.(1150-1152)GTG>GTC p.V384V SGK3_uc003xwp.2_Silent_p.V378V|SGK3_uc003xwt.2_Silent_p.V384V|SGK3_uc003xwu.2_Silent_p.V352V NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 384 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGCCAGGAGTGAGTCTTACAG 0.408 NA 46 56 0 0 0 0 LRRC67 286187 broad.mit.edu 37 8 67926687 67926687 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:67926687G>C uc003xxc.2 - 3 415 c.270C>G c.(268-270)CTC>CTG p.L90L NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 90 LRR 3. 0 TTAATGACCTGAGGTTCTCTA 0.289 NA 12 68 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68005835 68005835 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:68005835G>C uc003xxi.2 + 7 605 c.574G>C c.(574-576)GAA>CAA p.E192Q CSPP1_uc003xxg.1_Missense_Mutation_p.E184Q|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E157Q|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 192 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GGGTAAGGAAGAATCCAGTGA 0.338 NA 31 40 0 0 0 0 C8orf34 116328 broad.mit.edu 37 8 69633646 69633646 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:69633646G>C uc010lyz.2 + 10 1169 c.1120G>C c.(1120-1122)GAG>CAG p.E374Q C8orf34_uc003xyb.2_Missense_Mutation_p.E349Q NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 374 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGACGAATTTGAGAAAGCATC 0.269 NA 12 20 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766385 77766385 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:77766385G>A uc003yav.2 + 10 7480 c.7093G>A c.(7093-7095)GCA>ACA p.A2365T ZFHX4_uc003yau.1_Missense_Mutation_p.A2410T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2365T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2365 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A2394T(1) ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGAATATCCCGCAGAAAAGCC 0.552 NA HNSCC(33;0.089) 3 12 0 0 0 0 PAG1 55824 broad.mit.edu 37 8 81899695 81899695 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:81899695C>G uc003ybz.2 - 6 895 c.184G>C c.(184-186)GAC>CAC p.D62H NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 62 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ATCTCCTTGTCTGAAGGCTGa 0.428 NA 7 66 0 0 0 0 RBM12B 389677 broad.mit.edu 37 8 94746486 94746486 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:94746486G>A uc003yfz.2 - 3 2346 c.2153C>T c.(2152-2154)TCA>TTA p.S718L NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 718 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CTCCTGGGGTGACTGCCTGAA 0.627 NA 7 162 0 0 0 0 PTDSS1 9791 broad.mit.edu 37 8 97299316 97299316 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:97299316C>T uc003yht.1 + 4 485 c.383C>T c.(382-384)TCT>TTT p.S128F PTDSS1_uc003yhu.1_Intron NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 128 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CAGGTTAAATCTCTAATGTAT 0.433 NA 31 185 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100779029 100779029 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:100779029G>A uc003yiv.2 + 40 7264 c.7153G>A c.(7153-7155)GAA>AAA p.E2385K VPS13B_uc003yiw.2_Missense_Mutation_p.E2360K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2385 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATACTGGGATGAACTCCAGAA 0.318 NA 14 36 0 0 0 0 FZD6 8323 broad.mit.edu 37 8 104337587 104337587 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:104337587G>C uc003ylh.2 + 4 1537 c.1253G>C c.(1252-1254)GGA>GCA p.G418A FZD6_uc003yli.2_Missense_Mutation_p.G418A|FZD6_uc003ylj.2_Missense_Mutation_p.G418A|FZD6_uc011lhn.1_Missense_Mutation_p.G384A|FZD6_uc011lho.1_Missense_Mutation_p.G113A|FZD6_uc011lhp.1_Missense_Mutation_p.G363A NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 418 Helical; Name=6; (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATTCGAATTGGAGTCTTCAGC 0.403 NA 26 157 0 0 0 0 TAF2 6873 broad.mit.edu 37 8 120809951 120809951 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:120809951C>T uc003you.2 - 7 1198 c.928G>A c.(928-930)GAT>AAT p.D310N NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 310 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAAGCCTCATCAATGAAGACA 0.353 NA 6 75 0 0 0 0 SNTB1 6641 broad.mit.edu 37 8 121823703 121823703 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:121823703G>C uc010mdg.2 - 1 607 c.381C>G c.(379-381)ATC>ATG p.I127M SNTB1_uc003ype.2_Missense_Mutation_p.I127M NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 127 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGCCCCCCTTGATGCTGATCC 0.632 NA 10 20 0 0 0 0 FLJ43860 389690 broad.mit.edu 37 8 142477621 142477621 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:142477621C>G uc003ywi.2 - 18 2281 c.2200G>C c.(2200-2202)GAG>CAG p.E734Q FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 734 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TCGCTCAACTCTGCCAGTGTG 0.667 NA 10 41 0 0 0 0 FOXD4 2298 broad.mit.edu 37 9 117889 117889 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:117889G>A uc003zfz.2 - 1 529 c.231C>T c.(229-231)AGC>AGT p.S77S NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 77 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGAGGGGTCGCTCGGGCCGC 0.706 NA 26 105 0 0 0 0 SLC24A2 25769 broad.mit.edu 37 9 19619622 19619622 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:19619622G>C uc003zoa.1 - 3 1100 c.1038C>G c.(1036-1038)ATC>ATG p.I346M SLC24A2_uc003zob.1_Missense_Mutation_p.I346M NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 346 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGAGTTGGAAGATGCTATTCC 0.507 NA 16 105 0 0 0 0 IFNA8 3445 broad.mit.edu 37 9 21409280 21409280 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:21409280G>A uc003zpc.1 + 1 135 c.105G>A c.(103-105)AGG>AGA p.R35R NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TGGGTAACAGGAGGGCCTTGA 0.498 NA 30 85 0 0 0 0 DNAJA1 3301 broad.mit.edu 37 9 33038791 33038791 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:33038791G>A uc003zsd.1 + 9 1267 c.1084G>A c.(1084-1086)GAA>AAA p.E362K DNAJA1_uc011lnt.1_Missense_Mutation_p.E205K NM_001539 NP_001530 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 362 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) GGACCAAGTAGAACTGGTGGA 0.468 NA 9 46 0 0 0 0 CCDC107 203260 broad.mit.edu 37 9 35660981 35660981 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:35660981G>A uc011lox.1 + 5 715 c.649G>A c.(649-651)GAG>AAG p.E217K RMRP_uc003zxh.1_5'Flank|CCDC107_uc011loy.1_Missense_Mutation_p.E190K|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR NM_174923 NP_777583 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 precursor 217 integral to membrane 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AAAGGAGGACGAGGAGGAGAT 0.557 NA 19 91 0 0 0 0 POLR1E 64425 broad.mit.edu 37 9 37486584 37486584 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:37486584C>T uc003zzz.1 + 1 435 c.147C>T c.(145-147)TTC>TTT p.F49F POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 49 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) ACCCGAGCTTCCTTGCCATCC 0.527 NA 9 11 0 0 0 0 FOXD4L5 653427 broad.mit.edu 37 9 70177786 70177786 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:70177786C>G uc010moc.2 - 1 1030 c.198G>C c.(196-198)GGG>GGC p.G66G NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 66 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GAAGCGCAACCCCGCCCCACC 0.562 NA 7 85 0 0 0 0 C9orf71 169693 broad.mit.edu 37 9 71152191 71152191 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:71152191C>T uc004agt.2 - 2 550 c.497G>A c.(496-498)CGA>CAA p.R166Q uc004ags.1_RNA NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 166 integral to membrane 0 CTCTTGGCCTCGCCTCTGGGC 0.562 NA 4 41 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77354741 77354741 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:77354741G>A uc004ajl.1 - 34 5623 c.5385C>T c.(5383-5385)CTC>CTT p.L1795L TRPM6_uc004ajk.1_Silent_p.L1790L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.L746L|TRPM6_uc010mpd.1_Silent_p.L628L|TRPM6_uc010mpe.1_Silent_p.L342L|TRPM6_uc004ajj.1_Silent_p.L751L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1795 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTCCCGGCTTGAGAATGTCAT 0.507 NA 53 71 0 0 0 0 COL15A1 1306 broad.mit.edu 37 9 101765755 101765755 + Silent SNP G G C rs142437738 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:101765755G>C uc004azb.1 + 8 1292 c.1086G>C c.(1084-1086)GCG>GCC p.A362A NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 362 Nonhelical region 1 (NC1).|1.|4 X tandem repeats. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CAACAGCAGCGGGGCTGGCCG 0.582 NA 16 76 0 0 0 0 ERP44 23071 broad.mit.edu 37 9 102769866 102769866 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:102769866C>T uc004bam.2 - 9 1076 c.868G>A c.(868-870)GAA>AAA p.E290K ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.E290K NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 290 cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 CTACCTTTTTCACTTATTAAT 0.338 NA 12 42 0 0 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134893 114134893 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:114134893G>A uc004bfe.1 - 43 4878 c.4878C>T c.(4876-4878)ATC>ATT p.I1626I NM_001080398 NP_001073867 KIAA0368 protein 0 AGGTCTTGTAGATAGGTTCTG 0.348 NA 4 22 0 0 0 0 ZFP37 7539 broad.mit.edu 37 9 115805660 115805660 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:115805660G>C uc004bgm.1 - 4 1266 c.1238C>G c.(1237-1239)TCT>TGT p.S413C ZFP37_uc011lwz.1_Missense_Mutation_p.S428C|ZFP37_uc011lxa.1_Missense_Mutation_p.S414C NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 413 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 ATACCTAAAAGACTTCCCACA 0.393 NA 28 86 0 0 0 0 TRIM32 22954 broad.mit.edu 37 9 119460354 119460354 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:119460354C>T uc004bjx.2 + 2 491 c.333C>T c.(331-333)TTC>TTT p.F111F ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.F111F NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 111 B box-type. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 CCCGGCAATTCTGCCGGAGCT 0.592 NA Bardet-Biedl_syndrome 18 74 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119976688 119976688 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:119976688G>C uc004bjs.1 - 3 1065 c.964C>G c.(964-966)CTG>GTG p.L322V ASTN2_uc004bjr.1_Missense_Mutation_p.L322V|ASTN2_uc004bjt.1_Missense_Mutation_p.L322V NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 322 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 AGACTGTCCAGAGTGTGGGTC 0.552 NA 16 114 0 0 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129851244 129851244 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:129851244G>A uc004bqr.1 - 5 1956 c.1456C>T c.(1456-1458)CGA>TGA p.R486* RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.R184* NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 486 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding 0 GGGTTCGGTCGGATCATCATC 0.607 NA 23 111 0 0 0 0 TTC16 158248 broad.mit.edu 37 9 130486622 130486622 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:130486622G>A uc004brq.1 + 8 1163 c.1096G>A c.(1096-1098)GGA>AGA p.G366R PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.G353R|TTC16_uc004brr.1_Missense_Mutation_p.G311R|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 366 TPR 7. binding 0 GCAGGAGAAAGGACTCTACAT 0.662 NA 6 23 0 0 0 0 FPGS 2356 broad.mit.edu 37 9 130569916 130569916 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:130569916C>T uc004bsg.1 + 8 743 c.693C>T c.(691-693)CTC>CTT p.L231L FPGS_uc004bsh.1_Silent_p.L48L|FPGS_uc011mal.1_Silent_p.L205L|FPGS_uc004bsi.1_Silent_p.L181L NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 231 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) ACACCAGCCTCCTGGGGGATA 0.488 NA 4 25 0 0 0 0 TRUB2 26995 broad.mit.edu 37 9 131084583 131084583 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:131084583C>G uc004buq.1 - 1 115 c.105G>C c.(103-105)CTG>CTC p.L35L COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank NM_015679 NP_056494 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase homolog 2 35 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(1) 1 ACTCACCCTTCAGAAGTTGTA 0.562 NA 7 62 0 0 0 0 TOR1B 27348 broad.mit.edu 37 9 132566591 132566591 + Missense_Mutation SNP C C T rs78770065 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:132566591C>T uc004byk.1 + 2 499 c.439C>T c.(439-441)CAT>TAT p.H147Y NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 147 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) GCACTTCCCTCATGAGCAGAA 0.483 NA 26 82 0 0 0 0 OLFM1 10439 broad.mit.edu 37 9 137990304 137990304 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:137990304G>C uc010nar.2 + 4 945 c.629G>C c.(628-630)AGA>ACA p.R210T OLFM1_uc004cfl.3_Missense_Mutation_p.R192T NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 210 Potential. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CTTCAGAGCAGAGTGTCCAAT 0.527 NA 15 56 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139402742 139402742 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:139402742C>T uc004chz.2 - 20 3267 c.3267G>A c.(3265-3267)TGG>TGA p.W1089* NOTCH1_uc004cia.1_Nonsense_Mutation_p.W319* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1089 Extracellular (Potential).|EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AAAGGCCGGTCCAGCCGCTGG 0.652 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 31 64 0 0 0 0 TMEM141 85014 broad.mit.edu 37 9 139686222 139686222 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:139686222C>T uc004cje.3 + 2 160 c.114C>T c.(112-114)TTC>TTT p.F38F TMEM141_uc011meg.1_Silent_p.F38F NM_032928 NP_116317 Q96I45 TM141_HUMAN transmembrane protein 141 38 Helical; (Potential). integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112) TTTTCACCTTCGTCACAGGTA 0.672 NA OREG0019622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 49 0 0 0 0 MRPL41 64975 broad.mit.edu 37 9 140446891 140446891 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:140446891G>C uc004cnh.3 + 2 488 c.358G>C c.(358-360)GAG>CAG p.E120Q PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 120 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GTACGGCTTCGAGCCCACACA 0.602 NA 11 23 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140622883 140622883 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:140622883C>G uc011mfc.1 + 4 762 c.725C>G c.(724-726)TCT>TGT p.S242C EHMT1_uc004coa.2_Missense_Mutation_p.S242C|EHMT1_uc004cob.1_Missense_Mutation_p.S211C NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 242 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AAAAACATTTCTGACTTTGGA 0.458 NA 11 85 0 0 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187648 11187648 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:11187648C>T uc004cup.1 - 9 2659 c.1786G>A c.(1786-1788)GAA>AAA p.E596K ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E596K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E393K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E416K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E418K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E393K NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 596 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 TCATAATTTTCAATCATCTTT 0.488 NA 14 45 0 0 0 0 PRPS2 5634 broad.mit.edu 37 X 12837668 12837668 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:12837668G>C uc004cvb.2 + 5 697 c.573G>C c.(571-573)TTG>TTC p.L191F PRPS2_uc004cva.2_Missense_Mutation_p.L194F|PRPS2_uc010nec.2_Intron NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 191 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 AATTTGCTTTGATCCACAAAG 0.488 NA 36 120 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31986604 31986604 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:31986604G>T uc004dda.1 - 45 6710 c.6466C>A c.(6466-6468)CAA>AAA p.Q2156K DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q812K|DMD_uc004dcx.2_Missense_Mutation_p.Q815K|DMD_uc004dcz.2_Missense_Mutation_p.Q2033K|DMD_uc004dcy.1_Missense_Mutation_p.Q2152K|DMD_uc004ddb.1_Missense_Mutation_p.Q2148K|DMD_uc010ngo.1_Missense_Mutation_p.Q65K|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2156 Spectrin 15. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACAACAGTTTGCCGCTGCCCA 0.393 NA 20 53 1.38e-19 1.5e-19 1 0 SYTL5 94122 broad.mit.edu 37 X 37969686 37969686 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:37969686C>T uc004ddu.2 + 14 2081 c.1547C>T c.(1546-1548)TCA>TTA p.S516L SYTL5_uc004ddv.2_Missense_Mutation_p.S516L|SYTL5_uc004ddx.2_Missense_Mutation_p.S538L NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 516 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CCTTTTGACTCATGGAACTTT 0.438 NA 18 113 0 0 0 0 PAGE5 90737 broad.mit.edu 37 X 55247872 55247872 + Silent SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:55247872T>C uc004duj.2 + 2 359 c.117T>C c.(115-117)TCT>TCC p.S39S PAGE5_uc004duk.2_Silent_p.S19S NM_130467 NP_569734 Q96GU1 GGEE1_HUMAN P antigen family, member 5 isoform 1 39 0 ACCAAGAGTCTTCCCAGCCAG 0.348 NA 25 53 0 0 0 0 SPIN4 139886 broad.mit.edu 37 X 62570191 62570191 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:62570191C>T uc004dvf.2 - 1 1028 c.508G>A c.(508-510)GAC>AAC p.D170N NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 170 gamete generation ovary(1)|lung(1) 2 TCTTTGTAGTCATCAAGCAGC 0.478 NA 25 91 0 0 0 0 LPAR4 2846 broad.mit.edu 37 X 78010707 78010707 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:78010707C>G uc010nme.2 + 2 746 c.341C>G c.(340-342)TCT>TGT p.S114C NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 114 Helical; Name=3; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TGCAAGATCTCTGGAACTGCA 0.433 NA 27 121 0 0 0 0 P2RY10 27334 broad.mit.edu 37 X 78216233 78216233 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:78216233C>G uc004ede.2 + 4 585 c.216C>G c.(214-216)TTC>TTG p.F72L P2RY10_uc004edf.2_Missense_Mutation_p.F72L NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 72 Helical; Name=2; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CCATCATTTTCATGATCAACC 0.458 NA 12 101 0 0 0 0 NAP1L3 4675 broad.mit.edu 37 X 92928297 92928297 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:92928297C>G uc004efq.2 - 1 312 c.7G>C c.(7-9)GAA>CAA p.E3Q FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 3 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 AAATCTGCTTCTGCCATCTTG 0.453 NA 17 55 0 0 0 0 CENPI 2491 broad.mit.edu 37 X 100382652 100382652 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100382652G>C uc004egx.2 + 10 1342 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q CENPI_uc011mrg.1_Missense_Mutation_p.E358Q|CENPI_uc004egy.2_Missense_Mutation_p.E358Q NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 358 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 CCATTGCTTAGAGGTATGTGA 0.299 NA 41 103 0 0 0 0 DRP2 1821 broad.mit.edu 37 X 100505953 100505953 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100505953C>T uc004egz.2 + 16 2115 c.1746C>T c.(1744-1746)GTC>GTT p.V582V DRP2_uc011mrh.1_Silent_p.V504V NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 582 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 TGGAGTGGGTCAACCTGGAGC 0.537 NA 23 98 0 0 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911314 100911314 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100911314G>A uc004eid.2 - 3 1616 c.1261C>T c.(1261-1263)CAA>TAA p.Q421* ARMCX2_uc004eie.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc010nnt.2_Nonsense_Mutation_p.Q421* NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 421 ARM 2. integral to membrane binding ovary(6) 6 ATTGTCTCTTGATTGCATGAA 0.413 NA 20 68 0 0 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004986 102004986 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:102004986C>T uc010nog.2 + 4 1634 c.1063C>T c.(1063-1065)CCA>TCA p.P355S BHLHB9_uc011mrq.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrr.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrs.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrt.1_Missense_Mutation_p.P355S|BHLHB9_uc004ejo.2_Missense_Mutation_p.P355S|BHLHB9_uc011mru.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrv.1_Missense_Mutation_p.P355S NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 355 cytoplasm|nucleus binding ovary(2) 2 TAATGTTCACCCATTTGCCCA 0.363 NA 5 73 0 0 0 0 ESX1 80712 broad.mit.edu 37 X 103498857 103498857 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:103498857G>A uc004ely.2 - 2 542 c.484C>T c.(484-486)CAA>TAA p.Q162* NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 162 Homeobox. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCGGGATATTGAGATTCATCG 0.612 NA 22 70 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107976960 107976960 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:107976960G>A uc004eoc.2 - 1 2648 c.2615C>T c.(2614-2616)TCA>TTA p.S872L NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 872 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTTTGAAGGTGATCCCCCATC 0.443 NA 58 201 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107976981 107976981 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:107976981G>A uc004eoc.2 - 1 2627 c.2594C>T c.(2593-2595)TCA>TTA p.S865L NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 865 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCCAGGCTTTGAGAATGATCC 0.468 NA 60 212 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117526862 117526862 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:117526862G>C uc004eqn.2 + 4 879 c.454G>C c.(454-456)GAT>CAT p.D152H WDR44_uc004eqo.2_Missense_Mutation_p.D152H|WDR44_uc011mtr.1_Missense_Mutation_p.D127H|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 152 Potential.|Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 GAAACCAGTAGATGAAACCAC 0.378 NA 25 91 0 0 0 0 SASH3 54440 broad.mit.edu 37 X 128926786 128926786 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:128926786G>A uc011mun.1 + 6 957 c.775G>A c.(775-777)GAG>AAG p.E259K SASH3_uc004euu.2_Missense_Mutation_p.E259K|SASH3_uc011muo.1_Missense_Mutation_p.E226K NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 259 SAM. ovary(2)|pancreas(1) 3 GACCCTGCATGAGCTGCTGGA 0.607 NA 13 15 0 0 0 0 GPR101 83550 broad.mit.edu 37 X 136113291 136113291 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:136113291G>C uc011mwh.1 - 1 543 c.543C>G c.(541-543)CTC>CTG p.L181L NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 181 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TCATGGAGCAGAGAGCATTGC 0.572 NA 11 22 0 0 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084799 147084799 + Missense_Mutation SNP A A T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:147084799A>T uc004fcm.2 + 2 430 c.356A>T c.(355-357)GAT>GTT p.D119V NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 119 Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTGGAAGAAGATTCCGCATTG 0.353 NA 26 62 0 0 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013285 149013285 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:149013285G>C uc004fdw.1 + 3 454 c.239G>C c.(238-240)TGG>TCG p.W80S NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 80 0 Acute lymphoblastic leukemia(192;6.56e-05) AGCACTCTGTGGAGCCAATCC 0.597 NA 14 52 0 0 0 0 ABCD1 215 broad.mit.edu 37 X 153006073 153006073 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:153006073G>A uc004fif.2 + 7 2079 c.1680G>A c.(1678-1680)CCG>CCA p.P560P ABCD1_uc004fig.2_Silent_p.P60P|ABCD1_uc004fih.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 560 ABC transporter. P -> S (in X-ALD).|P -> L (in X-ALD; CALD-type).|P -> R (in X-ALD; AMN and ALMD-types). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGATCTACCCGGACTCAGTGG 0.637 NA 15 54 0 0 0 0 FAM50A 9130 broad.mit.edu 37 X 153677638 153677638 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:153677638G>C uc004fll.3 + 8 816 c.718G>C c.(718-720)GAG>CAG p.E240Q NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 240 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGACTTCAGTGAGCTGAGGTG 0.592 NA 11 33 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120480487 120480487 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:120480487delG uc001eik.2 - 20 3586 c.3330delC c.(3328-3330)TCCfs p.S1110fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.S1110fs NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1110 EGF-like 29.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTCTCCTGGAGGCTGCTA 0.483 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 14 43 --- --- --- --- NA NA NA NA IFT81 28981 broad.mit.edu 37 12 110628806 110628806 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:110628806delG uc001tqi.2 + 13 1550 c.1420delG c.(1420-1422)GAAfs p.E474fs IFT81_uc001tqh.2_Frame_Shift_Del_p.E474fs|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 474 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 ACTGAAGAGTGAAGTTGATGA 0.333 NA 34 76 --- --- --- --- NA NA NA NA LONP2 83752 broad.mit.edu 37 16 48286135 48286135 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:48286135delG uc002efi.1 + 2 416 c.327delG c.(325-327)CAGfs p.Q109fs LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Frame_Shift_Del_p.Q109fs NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 109 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GCCGTTTCCAGATTGTACAGG 0.507 NA 14 30 --- --- --- --- NA NA NA NA RAP1GAP2 23108 broad.mit.edu 37 17 2930332 2930332 + Frame_Shift_Del DEL C C - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:2930332delC uc010ckd.2 + 22 2165 c.2075delC c.(2074-2076)GCCfs p.A692fs RAP1GAP2_uc010cke.2_Frame_Shift_Del_p.A677fs NM_015085 NP_055900 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 isoform 1 692 Ser-rich. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity ovary(1) 1 GGGGCAGCTGCCACCCCGATC 0.647 NA 2 4 --- --- --- --- NA NA NA NA TMPRSS15 5651 broad.mit.edu 37 21 19725330 19725331 + Frame_Shift_Ins INS - - A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:19725330_19725331insA uc002ykw.2 - 10 1091_1092 c.1060_1061insT c.(1060-1062)TGTfs p.C354fs NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 354 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.C354F(1) ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GACCCAGAAACAAAAGCCATCC 0.332 NA 27 93 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187549762 187549763 + Frame_Shift_Ins INS - - A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187549762_187549763insA uc003izf.2 - 8 4666_4667 c.4478_4479insT c.(4477-4479)CTGfs p.L1493fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1493 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TACTGCTCTGCAGAGTGTAGAT 0.416 NA HNSCC(5;0.00058) 12 48 --- --- --- --- NA NA NA NA